Claus Diebler .

Olivier Dulac

Pediatric
Neurology and
N euroradiology
Cerebral and Cranial Diseases

Foreword by T.P. Naidich

With 486 Figures in 1867 Separate Illustrations

and 13 Tables

Springer-Verlag
Berlin Heidelberg NewYork
London Paris Tokyo
Dr. CLAUS DIEBLER

Centre Medico-Chirurgical Foch

40, rue Worth, F-92151 Suresnes

Dr. OLIVIER DULAC

Hopital Saint Vincent de Paul

INSERM U29
74, avo Denfert-Rochereau
F-75674 Paris Cedex 14

ISBN-13: 978-3-642-70380-5 e-ISBN-13: 978-3-642-70378-2

DOl: 1O.l 007/978-3-642-70378-2

Library of Congress Cataloging-in-Publication Data. Diebler. C. (Claus). 1943- . Pediatric neurology

and neuroradiology. Includes bibliographies and index. 1. Brain - Diseases - Diagnosis. 2. Skull -
Diseases - Diagnosis. 3. Diagnosis, Radioscopic. 4. Pediatric radiology. 5. Pediatric neurology. 1. Dulac
O. (Olivier), 1946- . II. Title. [DNLM: 1. Brain - radiography. 2. Neuroradiography - in infancy &
childhood. 3. Skull- radiography. WS 340 D559p] RJ492.D54 1987 618.92'804757 86-26269

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© Springer-Verlag Berlin Heidelberg 1987

Softcover reprint of the hardcover I st edition 1987

The use of registered names, trademarks, etc. in this publication does not imply, even in the absence
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To our wives and children,
who for years have only seen our backs
Foreword

This wonderful, profusely illustrated book provides a concise and

thoughtful review of all the important diseases of the child's brain. The
lesions are well organized into logical categories that help the reader
to remember the information conveyed. The important features of each
entity are discussed thoroughly. Data from the literature are documented
by selected references and are clearly distinguished from the authors'
personal experience.
The gross pathology of each disease is illustrated by well selected,
high quality CT scans and supporting neuroradiological studies. Each
caption begins with the relevant clinical data, so the reader understands
the clinical context in which the study was obtained. The caption then
describes the specific CT features of the case, so the reader learns to
interpret the images correctly to arrive at the final diagnosis. By this
technique, the authors provide the reader with a large experience in all
aspects of pediatric cranial CT and teach him to distinguish properly
among the diverse disease states.
The authors must be congratulated for their excellence and their me-
ticulous attention to detail. They have written an important book that
brings together the fields of pediatric neurology and pediatric cranial
CT, enhancing both. This volume is a necessary addition to the personal
and professional libraries of all physicians who care for children: pediatri-
cians, neurologists, neurosurgeons and radiologists. I feel I am a better
physician for having read this text.

Chicago 1987 THOMAS P. NAIDICH

Preface

This book should not be considered as merely another treatise on neu-

ropediatrics or neuroradiology. Excellent books on neuropediatrics or
on recent progress in radiologic technique, with exhaustive reviews of
the literature, have been published in recent years.
Experience has shown that a radiologist is somewhat at a loss in
the enumeration of complex convulsive or neurodegenerative disorders
of childhood, and that the pediatrician is not necessarily interested in
the technical problems of CT installations or in the advantages of differ-
ent contrast materials. Therefore, a synthesis of clinical, pathologic, and
radiologic approaches to cranial and cerebral diseases seems to be needed
by both the pediatrician and the radiologist.
Pediatric Neurology and Neuroradiology results from a 12-year collab-
oration between us and our departments. Each of us began his hospital
activity as a neuropediatrician; one (Dulac) has remained so, while the
other (Diebler), to obtain the desired neuroradiologic examinations, has
progressively moved toward neuroradiology, which currently is his sole
activity. In this work we have collaborated in evaluating two series, the
neuropediatrical of the Saint Vincent de Paul Hospital and the neurora-
diologic of the Foch Hospital; they correspond to about 10000 observa-
tions. This book thus not only reflects a review of the literature, but
essentially our personal experience. For example, the reader will not only
find the description of the classical form of the agenesis of the corpus
callosum, but also its variants, associated malformations, and the differ-
ent types of clinical manifestations observed in a series of over 100 cases.
Our classification of the various diseases may not appear always satis-
factory, but a choice needed to be made. We discuss septal dysplasia
in the chapter on cerebral malformations, and diseases of probably infec-
tious origin such as epilepsia partialis continua and multiple sclerosis
in the chapter on infectious diseases.
This book contains primarily CT images and reproductions of" classi-
cal" neuroradiologic examinations, such as plain skull films and arterio-
grams. It may thus be considered as not at the forefront of technical
progress. But magnetic resonance imaging is very similar to CT imaging,
and interpretation of magnetic resonance scans is greatly helped by
knowledge acquired from CT. Rapid changes in technology and technical
performances in the last few years make it difficult to present a homoge-
neous evaluation of large clinical and radiological series, and the publica-
tion of a similar series with magnetic resonance examinations will take
another 10 years, by which time magnetic resonance itself will have been
replaced by '" who knows?
x Preface

The authors wish to thank and acknowledge for their direct or indirect
help: Mme M.e. Herry for technical assistance; Pr.M. Arthuis, Pr.G.
Ponsot, Dr. P. Aubourg, and Dr. Chiron from the Service de Neuropedia-
trie, Hopital Saint Vincent de Paul; Dr. e. Bamberger, Dr. G. Joly Pot-
tuz, and Dr. J. Rosier from the Departement de Neuroradiolie, Hopital
Foch; the nurses and X-ray technicians at these two departments; Dr.
P. Derome, Dr. A. Visot, Dr. L. Anquez, Dr. O. Delalande, Dr. J. Ai-
cardi, Dr. C. Kalifa, Dr. G. Kalifa, Dr. G. Lalande, and all the pediatri-
cians in the Paris region who have addressed their patients to us.

December 1986 CLAUS DIEBLER

OLIVIER DULAC
Contents

1 Cerebral and Cranial Malformations 1

1.1 Malformations of the Corpus Callosum 1
1.1.1 Etiology 2
1.1.2 Associated Malformations 3
1.1.3 Clinical Appearance of Agenesis of the Corpus
Callosum 4
1.2 Prosencephaly: Arhinencephaly 16
1.3 Absence of the Septum Pellucidum 21
1.3.1 Septo-Optic Dysplasia 22
1.3.2 Septal Agenesis with Porencephalies and
Heterotopias 22
1.4 Malformations of the Cerebral Cortex 26
1.4.1 Agyria-Pachygyria 26
1.4.2 Walker or HARD ± E Syndrome 28
1.4.3 Congenital Muscular Dystrophy with
Involvement of the Central Nervous System 28
1.4.4 Cerebrohepatorenal Syndrome of Zellweger 29
1.5 Congenital Obstruction of the Aqueduct of Sylvius 33
1.6 Cleland-Chiari Malformation 37
1.7 Dandy-Walker Syndrome 41
1.8 Cerebellar Hypoplasia 44
1.9 Cephaloceles 51
1.9.1 Sphenoidal Cephaloceles 52
1.9.2 Frontoethmoidal Cephaloceles 54
1.9.3 Occipital Cephaloceles 55
1.9.4 Parietal Cephaloceles 57
1.10 Malformative Intracranial Cysts 67
1.10.1 Arachnoid Cysts 67
1.10.2 Other Malformative Intracranial Cysts 70
1.11 Hamartoma of the Tuber Cinereum 78
1.12 Benign External Hydrocephalus 83
1.13 Primary Megalencephaly 84

2 Neurocutaneous Syndromes 85
2.1 Neurofibromatosis 85
2.1.1 Optic Gliomas 86
2.1.2 Hemispheric and Basal Ganglia Tumors 88
2.1.3 Neurinomas and Meningiomas 88
2.1.4 Macrocrania 88
XII Contents

2.1.5 Hydrocephalus Resulting from Stenosis

of the Aqueduct 88
2.1.6 Cranial Neurofibromas 88
2.1.7 Buphthalmos 89
2.1.8 Osseous Dysplasia 89
2.2 Tuberous Sclerosis 94
2.3 Sturge-Weber Syndrome 99
2.4 Incontinentia Pigmenti 105
2.5 Nevus Linearis Sebaceus Syndrome 105
2.6 Encephalocraniocutaneous Lipomatosis 106
2.7 Hypomelanosis of It6 (Incontinentia Pigmenti
Achromians) 108
2.8 Neurocutaneous Melanosis 108
2.9 Nevoid Basal Cell Carcinoma Syndrome 109
2.10 Facial Nevi Associated with Anomalous Venous Return
and Hydrocephalus 109

3 Inherited Metabolic Diseases 111

3.1 Diseases with Basal Ganglia Lesions 112
3.1.1 Huntington's Disease 112
3.1.2 Wilson's Disease or Hepatolenticular
Degeneration 112
3.1.3 Leigh's Disease or Necrotizing Encephalo-
myelo-pathy 114
3.2 Poliodystrophies 117
3.2.1 Alpers' Syndrome 117
3.2.2 Menkes' Disease or Trichopoliodystrophy 119
3.2.3 Ceroid Lipofuscinosis 121
3.3 Infantile Neuroaxonal Dystrophy 122
3.4 Lafora's Disease 123
3.5 Leukod ystrophies 123
3.5.1 Sudanophilic Leukodystrophy 123
3.5.2 Krabbe's Disease or Globoid Cell
Leukodystrophy 125
3.5.3 Metachromatic Leukodystrophy 127
3.5.4 Adrenoleukodystrophy 129
3.5.5 Cerebrotendinous Xanthomatosis 131
3.5.6 Alexander's Disease 131
3.5.7 Spongy Degeneration of the Cerebral White
Matter or van Bogaert-Canavan Disease 133
3.6 Kearns-Sayre Syndrome 135
3.7 M ucopolysaccharidosis 136
3.8 Ataxia -Telangiectasia 137

4 Infectious Diseases of the Central Nervous System 139

Bacterial Infections 139
4.1 Neonatal Leptomeningitis 139
Contents XIII

4.2 Bacterial Leptomeningitis in Infancy and Childhood 145

4.3 Intracranial Tuberculosis 149
4.4 Intracranial Suppuration 153
Viral Infections and Diseases of Presumed Viral Origin 158
4.5 Viral Encephalitis 158
4.5.1 Acute Leukoencephalitis 158
4.5.2 Acute Hemorrhagic Leukoencephalitis 159
4.5.3 Brain Stem Encephalitis 159
4.5.4 Focal Encephalitis with Epilepsia Partialis
Continua 159
4.4.5 Herpes Simplex Virus Encephalitis 162
4.5.6 Subacute Sclerosing Panencephalitis 169
4.5.7 Congenital Cytomegalovirus Infection 171
4.5.8 Congenital Rubella 171
4.5.9 Parainfectious Acute Obstructive Hydrocephalus 172
4.5.10 Guillain-Barre Syndrome 172
4.5.11 Multiple Sclerosis 173
Parasitic Diseases 176
4.6 Toxoplasmosis 176
4.7 Cerebral Hydatid Cyst 180
4.8 Cysticercosis 182

5 Vascular Disorders 185

5.1 Prenatal and Perinatal Cerebral Lesions of Circulatory
Origin . . . . . . . . . . . . . . . . . . . . . 185
5.1.1 Prenatal Cerebral Lesions of Circulatory Origin 186
5.1.2 Perinatal Cerebral Lesions of Circulatory Origin 188
5.1.2.1 Predominantly Ischemic Lesions 188
5.1.2.2 Predominantly Hemorrhagic Lesions 191
5.1.3 Cerebral Sequelae of Prenatal and Perinatal
Circulatory Brain Lesions with Delayed Clinical
Manifestations 193
5.2 Postnatal Vascular Obstruction 212
5.2.1 ArterialObstruction. 212
5.2.1.1 Congenital Heart Disease 217
5.2.1.2 Moyamoya Syndrome 217
5.2.1.3 Fibromuscular Dysplasia 218
5.2.1.4 Complications of Arterial
Catheterization . . . . 218
5.2.1.5 Arterial Occlusion Secondary to
Intracranial Tumors . . . . . 218
5.2.1.6 Delayed Hypoxic Encephalopathy 219
5.2.1.7 Sudden Infant Death Syndrome,
"Near-Miss" Syndrome 219
5.2.2 Thrombosis of the Cerebral Veins 220
5.2.3 Diseases with Obstruction of the Cerebral
Capillaries . . . . . . . . . . . . . 221
XIV Contents

5.2.3.1 Hemolytic-Uremic Syndrome 221

5.2.3.2 Sickle Cell Anemia . . . . 221
5.2.3.3 Schonlein-Henoch Syndrome 221
5.3 Cranial and Cerebral Vascular Malformations 229
5.3.1 Arteriovenous Malformations . . . 230
5.3.1.1 Aneurysms of the Vein of Galen 230
5.3.1.2 Arteriovenous Malformations (Sensu
Strictu) . . . . . . . . . . . . 233
5.3.1.3 Cavernous Hemangiomas . . . . 235
5.3.1.4 Intracranial Venous Malformations 236
5.3.2 Intracranial Aneurysms . . . . . . 237
5.3.3 Craniofacial Capillary Hemangiomas 238

6 Intracranial Tumors . . . . . . 255

6.1 Posterior Fossa Tumors 256
6.1.1 Medulloblastoma 256
6.1.2 Ependymoma.. 263
6.1.3 Cerebellar Astrocytoma 268
6.1.4 Dermoid Cyst . . . . 273
6.1.5 Rare Tumors of the Cerebellum and Fourth
Ventricle . . . . . . . . 274
6.1.6 Tumors of the Brain Stem 276
6.1.7 Meningeal Gliomatosis . . 284
6.1.8 Chordoma . . . . . . . 285
6.1.9 Neurinoma (Schwannoma) 287
6.2 Tumors of the Region of the Third Ventricle and
the Region of the Sella Turcica . . . . . . . . 289
6.2.1 Tumors of the Pineal Region . . . . . 289
6.2.2 Gliomas of the Region of the Third Ventricle 295
6.2.3 Craniopharyngioma . . . . . . . 302
6.2.4 Pituitary Adenoma ...... . 309
6.2.5 Rare Tumors of the Sphenoidal and
Sellar Region . . . . . . . 312
6.3 Tumors of the Cerebral Hemispheres 315
6.3.1 Tumors of the Basal Ganglia 315
6.3.2 Choroid Plexus Papilloma 319
6.3.3 Ependymoma.. 322
6.3.4 Astrocytoma 325
6.3.5 Oligodendroglioma 331
6.3.6 Meningeal Tumors 333
6.3.7 Intracranial Metastases of Extracranial Tumors 335
6.4 Orbital Tumors . . . . . 337
6.4.1 Ocular Tumors 337
6.4.2 Intraconal Tumors 338
6.4.3 Intra- and Extraconal Tumors 338
6.4.4 Extraconal Tumors 338
6.4.5 Preseptal Tumors 339
Contents xv

7 Cranial Trauma 343

7.1 Physiopathology of the Cerebral Lesions . . . 343
7.1.1 Lesions due to the Impact on the Brain 343
7.1.2 Lesions Resulting from Hemorrhage 343
7.2 Clinical and Radiologic Aspects of Head Trauma
in Infancy and Childhood . . . . . . 334
7.2.1 Immediate Post-traumatic Period 334
7.2.2 Delayed Complications . . . . . 348
7.2.3 Long Term Complications and Sequelae 349

8 Miscellaneous 357
8.1 Osseous Dysplasias 357
8.1.1 Craniosynostosis 357
8.1.2 Cranial Fibrous Dysplasia 360
8.1.3 Osteopetrosis (Albers-Schonberg's Disease) 363
8.1.4 Craniometaphyseal Dysplasia . . . . 365
8.1.5 Generalized Cortical Hyperostosis (Van
Buchem's Disease) . . . . . . 365
8.1.6 Achondroplasia....... 366
8.1. 7 Atlanto-Occipital Malformations 368
8.2 Histiocytosis X . . . . . . . . . . . 371
8.3 Iatrogenic Diseases . . . . . . . . . 373
8.3.1 Neurologic Manifestations of Leukemias and
Lymphosarcoma and Their Treatment 373
8.4 Radionecrosis .............. 385
8.5 Review of Various Symptoms and Syndromes in Infancy
and Childhood 387
8.5.1 Seizures . . . . . . . . . . . 387
8.5.2 Dystonia........... 393
8.5.3 Macrocephaly and Hydrocephalus 396

SUbject Index 401

1 Cerebral and Cranial Malformations
Cerebral and cranial malformations represent
the most frequent malformations in man. Mal-
formations of the central nervous system repre-
sent the cause of about 60%-80% of all still-
births and about 40% of all infant deaths attrib-
uted to congenital malformations (2). But the
incidence of malformations of the central ner-
vous system is certainly higher than infant mor-
tality suggests because large statistical series are
based on reviews of the causes of infant deaths,
and many malformations such as callosal de-
fects, hamartomas, or cerebellar hypoplasia are
compatible with life.
Diagnosis of the malformation is most often
made in the first weeks and months of life. The
late and often fortuitous discovery of major ce-
rebral malformations in late childhood and
adulthood is exceptional. The frequency of asso-
ciation of cranial and cerebral malformations
due to common embryologic causes, as for ex-
ample in cephaloceles, Arnold-Chiari malfor-
mations, callosal malformations, and anence-
phaly, render impossible a clear distinction be-
tween cranial and cerebral malformations, and
it is for this reason that we have grouped them
in the same chapter.
Cerebral malformations may result from any
abnormality occurring during embryologic life.
Most, such as agenesis of the corpus callosum,
prosencephaly, and Chiari II malformation, ar-
ise between 20 and 40 days of gestation (1). The
cause of the malformation is usually unknown,
and only 15%-20% of the craniocerebral mal-
formations may be explained by a more precise
cause, usually consisting of abnormal develop-
ment resulting from a
- Single abnormal gene, as in hereditary aque-
ductal stenosis
- Chromosomal aberration, as in some cases
of prosencephaly or agenesis of the corpus
callosum
- Multifactorial genetic transmission, as in an-
encephaly
Cerebral malformations due to exogenous
factors that disrupt normal development, such
as irradiation, toxic chemical substances, and
viral infections, appear to be the exception. Vas-
cular thrombosis has been suggested in some
cases of agenesis of the corpus callosum and
in septal agenesis associated with a particular
type of porencephalic cysts, but this seems to
be only an exceptional cause of cerebral malfOl;-
mations. Only malformations of the midline
structures or symmetrical malformations in-
volving both cerebral hemispheres - such as
prosencephaly, callosal defects, or agyria - may
be genetically transmitted. They may be as-
sociated with ocular, skeletal, or visceral mal-
formations, forming a malformation complex
such as Aicardi's, Meckel's and Walker's syn-
dromes.
Recognition of genetically, transmitted mal-
formations is important because of the risk of
recurrence, but is often difficult in the first af-
fected child.
References
1. Lemire RJ, Loeser JD, Leech RW et al. (1975) Nor-
mal and abnormal development of the human ner-
vous system. Harper and Row, Hagerstown
2. Record RG, McKeown T (1949) Congenital malfor-
mations of the central nervous system. A survey of
930 cases. Br J Soc Med 4: 183-219
1.1 Malformations of the Corpus
Callosum
The malformations of the corpus callosum in-
clude total or partial agenesis of the corpus cal-
losum, lipoma of the corpus callosum, and mid-
line cysts located in the region of the corpus
2 Cerebral and Cranial Malformations
callosum. The most frequent of these malforma-
tions, agenesis of the corpus callosum, was first
described in 1812 by Reil (52) in an autopsy
case. When diagnosis became possible by pneu-
moencephalography (11), it appeared to be a
relatively frequent malformation and was ob-
served in 45 of 6450 pneumoencephalographies
(24). A total of 275 observations were reported
in the literature prior to 1968 (63):169 with ra-
diologic diagnosis and 106 with diagnosis at au-
topsy.
Clinical presentation of agenesis of the cor-
pus callosum is most variable. A few patients
may remain asymptomatic (23), but most show
neurologic problems as variable as macro crania,
microcrania, seizures, hypotonia, slight to se-
vere mental retardation; these are the most fre-
quent clinical manifestations. Agenesis of the
corpus callosum may be isolated or part of a
malformation complex including:
- Other cerebral malformations, such as agyria,
heterotopias, porencephalic cysts, and cere-
bellar hypoplasia
- Cranial malformations such as hypertelorism,
cephaloceles, craniosynostosis
- Skeletal, cardiac, or genital malformations
1.1.1 Etiology
The etiology of agenesis of the corpus callosum
is usually unknown. Only a small number of
cases suggest a genetic cause through chromo-
somal aberrations, familial cases, or association
with a genetically transmitted disease.
a) Various chromosomal aberrations have
been observed in association with agenesis of
the corpus callosum:
- Trisomy 18 (48, 65)
- Trisomy 13 (67) or trisomy 13 phenocopy
with normal chromosomes (39)
- Trisomy 8 (9) (personal case)
- Trisomy F (3)
- Translocation 2-13 (33)
- Translocation 4-15 (41)
- Deletion lq43 (personal case)
- Deletion of chromosome 18 (12) (personal
case)
- Monosomy 1 (personal case)
- Mosaic 46XXj45XO (personal case)
Agenesis of the corpus callosum is not a con-
stant finding in these various chromosomal ab-
errations, and a patient with trisomy 18 may
present agenesis of the corpus callosum, prosen-
cephaly, or even cerebellar hypoplasia (48). All
the patients with chromosomal aberrations had
severe mental retardation and generally died
early.
b) Familial observations of agenesis of the
corpus callosum are infrequent and extremely
heterogeneous in their clinical presentation, se-
verity and mode of transmission; only about
18 families have been reported in the literature
(2, 3, 9, 29, 36, 40, 42, 44, 47, 55, 56, 57, 58,
59, 70). No clinical, biological, or radiologic fea-
tures allow these familial cases to be distinguish-
ed from the other forms of agenesis of the cor-
pus callosum, thus suggesting a recurrent fami-
lial risk, except for the particular association
of callosal agenesis and peripheral neuropathy
reported in over 200 French Canadians (3) and
observed in two personal cases concerning an
Algerian family. In our series of 119 observa-
tions, the latter were the only familial ones.
c) Association of agenesis of the corpus cal-
losum with genetically transmitted diseases is
rare. It has been reported in one supposed case
of tuberous sclerosis (18), one of leprechaunism
(60), one of Gorlin's syndrome (6), and one of
Apert's syndrome (personal case); these obser-
vations are so rare that they seem fortuitous.
Several cases of a particular type of agenesis
of the corpus callosum have been observed in
association with the orodigitofacial syndrome,
a condition probably characterized by dominant
sex-linked transmission (17,62) (two personal
observations).
Aicardi's syndrome (1,43) corresponds to a
malformation complex of presumed genetic ori-
gin, including agenesis of the corpus callosum,
retinal lacunae, and vertebral abnormalities in
patients with female karyotype (25).
d) Observations of agenesis of the corpus
callosum imputable to exogenous factors are ex-
ceptional:
- Maternal diabetes (51)
- Maternal hypertension (51) (two personal
cases)
Malformations of the Corpus Callosum
- Congenital rubella was suspected but not con-
firmed in one case (20)
- Fetal alcohol syndrome was suspected in one
published (27) and one personal observation
- Fetal arterial thrombosis was suspected in
two observations with associated porence-
phalic cysts (14,61)
Agenesis of the corpus callosum suggests
disturbances in the development of the central
nervous system occurring as soon as the end
of the 1 and the beginning of the 2nd gestational
month. The corpus callosum derives from the
commissural plate, a thickening of the unfolded
lamina terminalis. The commissural plate is well
formed at 44 days of gestation (34). The initial
crossing of callosal fibers through the com-
missural bed can be seen at 10-11 weeks of ges-
tation (50). The callosal fibers continue to devel-
op until the genu, body, splenium, and rostrum
are successively formed. The most anterior part
of the rostrum may develop secondarily. The
gross form of the corpus callosum is achieved
by the end of the 5th month. Development of
the callosal fibers is closely related to that of
the third and fifth cortical layers. Agenesis of
the corpus callosum may be complete or partial.
In the complete form, the ascension of the roof
of the third ventricle leads to the lateral dis-
placement of the fornices. The two leaves of
the septum pellucidum are separated by the
bulging upper part of the third ventricle and
form the interior, membranous part of the roof
of the lateral ventricles. The exterior part of the
roof of the lateral ventricles is formed by a rudi-
mentary tract of white matter projecting in a
fronto-occipital direction, called longitudinal
callosal or Probst's bundles. The diameter of
Probst's bundles diminishes from the frontal to
the occipital region, explaining the relative stric-
ture of the anterior horns and the relative en-
largement of the posterior part of the lateral
ventricles. The anterior commissure may be
missing, but is usually preserved; the posterior
commissure seems always to be preserved. The
interhemispheric surface has an abnormal gyral
pattern: The cingular gyrus is absent, and the
other gyri are perpendicular to the roof of the
third ventricle.
3
In partial callosal agenesis, it is generally the
posterior part of the corpus callosum that is
missing. The rostrum and genu are preserved,
and the cingular gyrus is discernible in this part.
On rare occasions, the rostrum may be missing.
1.1.2 Associated Malformations
A great number of cerebral malformations have
been observed in association with callosal agen-
esis, such as lipoma of the corpus callosum, ab-
normalities in the cortical architecture, hetero-
topias, porencephalic cysts, and hydrocephalus.
a) Lipoma of the corpus callosum is a rare,
sporadic malformation. Since its first descrip-
tion by Rokitansky (54), about 80 observations
have been reported in the literature (21, 22, 30,
31,41,66,68,69). Complete or, less frequently,
partial agenesis of the corpus callosum is asso-
ciated in about half the cases (Figs. 1.19-1.22).
b) Cerebellar abnormalities are frequently
associated with agenesis of the corpus callosum.
These abnormalities most often correspond to:
- vermian hypoplasia (34, 64, one personal
case)
- hemispheric cerebellar hypoplasia (64)
- global hypoplasia of the cerebellar vermis and
hemispheres and of the brain stem (four per-
sonal observations) (Fig. 1.6).
- cystic dilatation of the cisterna magna (64)
(three personal observations)
In the past, association of Dandy-Walker
syndrome with agenesis of the corpus callosum
was often thought to be frequent, but from a
review of the literature and from our personal
experience this seems not to be the case; the
association is rather rare (Fig. 1.6).
c) Hamartoma of the tuber cinereum asso-
ciated with agenesis of the corpus callosum has
been observed in a personal case (15) (Fig. 1.10)
and seems probable in a reported case (64).
d) Hydrocephalus may be secondary to par-
tial obstruction of the foramen of Monro (two
personal cases), to aqueductal stenosis (64) (two
personal cases), or to Dandy-Walker syndrome
(one personal case).
e) Agenesis of the corpus callosum may be
associated with certain types of cephaloceles. It
4 Cerebral and Cranial Malformations
is particularly frequent in parietal (37) and
spheno-ethmoidal cephaloceles (16), less fre-
quent in nasofrontal cephaloceles. In frontopar-
ietal cephaloceles, the callosal defect is asso-
ciated with a callosal lipoma herniating into the
cephalocele (30, 31) (two personal cases)
(Figs. 1.21, 1.22).
f) In one reported (28) and in two personal
observations, agenesis of the corpus callosum
was associated with agyria. Mental retardation,
seizures, cranial dysmorphia with narrow fore-
head, and characteristic EEG abnormalities
were the main features (Fig. 1.18).
g) Unilateral hemispheric hypoplasia, some-
times associated with porencephalic cysts, has
been reported once in the literature and seen
in three of our own cases (Figs. 1.9, 1.10).
h) Association of callosal defects with inter-
hemispheric cysts is frequent, seen in 22 of
119 personal observations. Three types of inter-
hemispheric cysts have been observed:
- The cystic dilatation of the upper third ventri-
cle may lead to the formation of a median
interhemispheric cyst that may cover the two
cerebral hemispheres when the falx is hypo-
plastic. The cyst will be lateral paramedian
when the falx is preserved. The cyst generally
communicates freely with the ventricular sys-
tem. Symmetrical or asymmetrical macro-
crania is usual (Fig. 1.9).
- A cystic dilatation of the entire third ventricle
with absence of the anterior commissure was
observed in four cases of our series. Two of
these cases of complete interhemispheric cleft
occurred in association with orodigitofacial
syndrome; similar cases were reported in the
literature (17,62) (Figs. 1.11-1.14).
- Noncommunicating cysts of the callosal re-
gion are most often associated with agenesis
of the corpus callosum, and it is for this rea-
son that we have included them in this
chapter, particularly since the distinction be-
tween midline arachnoid cysts and callosal
agenesis remains vague (Figs. 1.15-1.17).
i) Ocular malformations are frequently asso-
ciated with agenesis of the corpus callosum. In
119 cases, we have observed:
- Four cases of un i- or bilateral microphthalmia
- Four cases of coloboma
- Nine cases of retinal lacunae (Aicardi syn-
drome)
- Two cases of optic nerve hypoplasia
The frequency of this association between
callosal and optic malformations seems to be
due to the proximity in time and location of
the formations of these two structures (5).
j) Craniofacial dysmorphia may be asso-
ciated with agenesis of the corpus callosum, and
we have observed:
- Osseous hypertelorism in 12 cases
- A facial cleft with palatine fissure in two cases
- Retrognathism in six cases
An association with Apert's syndrome (one
personal case), Crouzon's syndrome, and other
types of craniosynostosis has been reported.
k) Hypothalamic abnormalities as revealed
by signs of hypothalamic insufficiency may be
associated with callosal defects; they consist of
low levels of somatotrophic hormone (four per-
sonal cases), antidiuretic hormone (two per-
sonal cases), or gonadotrophine (two personal
cases).
1) Skeletal and visceral malformations asso-
ciated with agenesis of the corpus callosum have
been reported principally in neuropathologic se-
ries performed during the neonatal period (41),
where they may involve 50% of the cases. Most
often, they are part of a malformation complex,
such as chromosomal aberrations or Aicardi's
syndrome, and they are often incompatible with
long survival.
1.1.3 Clinical Appearance of Agenesis
of the Corpus Callosum
Fortuitous discovery of" asymptomatic" cases
is rare; only 20 such cases in adults have been
reported (6). Sensitive visual and motor tests
(21) may however show the limits of functional
compensation. In children, fortuitous discovery
is exceptional, though cases of apparently for-
tuitous discovery have actually become more
frequent because of ultrasonography and CT
scans. In our series, discovery was fortuitous
in six cases in which a CT scan was required
to investigate the effects of premature birth and
alcohol.
Malformations of the Corpus Callosum 5

Generally, agenesis of the corpus callosum retardation most often appears moderate and
is revealed by neurologic dysfunction, none of was even lacking in three cases. Seizures were
which is specific. unusual. Although this group is most certainly
Mental retardation generally becomes eVI- not homogeneous with regard to clinical signs
dent in the first months of life; it was and though smaller hemispheric malformations
such as heterotopias cannot be ruled out on a
- Severe in 74 cases
CT scan showing isolated agenesis of the corpus
- Moderate in 12 cases
callosum, it seems that the patients in this group
- Missing in ten cases
have a better prognosis and even may stay
In 15 cases, it could not be correctly evalu- asymptomatic (7, 23).
ated (neonatal cases); precise data were lacking Neuroradiologic diagnosis, formerly based
in eight cases. Seizures were observed in 61 cases on pneumoencephalography (11), which best
(51 %). They appeared early: before 6 months demonstrates the ventricular deformity, is now
in 26%, before 2 years in 45%, and before possible with a CT scan. The appearance of the
5 years in 47% of the cases. Seven patients had isolated, complete form of agenesis of the cor-
a single seizure; in the other patients, the second pus callosum on a CT scan is characteristic. The
seizure appeared less than a year after the first third ventricle is large. Ascension of the roof
one. The seizures were generalized and tono- of the third ventricle is best demonstrated on
clonic in 31 cases. Another 17 patients, seven of frontal CT scan views or on the habitual hori-
whom had Aicardi's syndrome, had infantile zontal views when the upper part of the third
spasms. A total of 27 patients had partial motor ventricle can be seen on the same view as the
seizures; five of these developed hemiconvul- body of the lateral ventricles. The lateral ventri-
sionhemiplegia syndrome. The EEG was asym- cles are displaced laterally and show characteris-
metrical in 70% of the cases, the cases of Aicar- tic deformation, their frontal horns being
di's syndrome excepted. All the patients with stretched laterally and narrow, as if compressed,
seizures in the first 6 months of life either died and contrasting with the posterior horns and
or had severe mental retardation (34 cases). the ventricular trigones, which are enlarged
Unilateral pyramidal signs were noted in (Figs. 1.1-1.3).
25 cases. B) Aicardi's syndrome has only been ob-
Axial and limb hypotonia were frequent served in girls with apparently normal karyo-
(26 cases), particularly in the 1st year of life. types, except for one case with Klinefelter's
Spasticity, hemidystonia, ataxia, nystagmus, ho- anomaly (25), suggesting a recent X-linked
monymous lateral hemianopsia, and swallowing dominant mutation that is lethal to males (1).
problems were exceptional; peripheral neuropa- First described by Brihaye (8), it includes agene-
thy was noted only in two brothers. Head cir- sis of the corpus callosum, seizures, and abnor-
cumference was normal for age in 47 cases; mi- mal ocular fundi. Seizures usually appear before
crocephaly was noted in 39 cases and macro- the 3rd month; they are frequent, partial motor,
crania in 33 cases. Paroxystic hypothermia has often followed by asymmetrical infantile
been reported in four cases of the literature (32). spasms. Mental retardation, microcephaly, pyr-
Similar neurologic signs have been reported in amidal signs, and hemiparesis may appear as
other large series (24, 35). the child grows up. Numerous round, neat lacu-
Specific syndromes may be isolated in the nae in the retina are characteristic of the syn-
heterogeneous group of callosal malformations. drome. The border of the lacunae is often de-
A) In about a fifth of our cases, agenesis marcated with hyperpigmentation (26). The la-
of the corpus callosum remained apparently iso- cunae are usually bilateral; a coloboma may be
lated without any other detectable cerebral mal- associated. An EEG discloses suppression
formations such as periventricular heterotopias, bursts and partial discharges independently in
ventricular enlargement, agyria, cerebellar hy- both hemispheres. Radiographs may show ver-
poplasia, or microcephaly. In this group, mental tebral and costal abnormalities (Fig. 1.4d).
6 Cerebral and Cranial Malformations
Neuropathologic examination shows com-
plete, rarely partial posterior agenesis of the
corpus callosum (1,8,13,43). The gyral pattern
is abnormal, radial to the third ventricle. Poly-
microgyria may be observed in large cortical
regions. Small heterotopias of immature neu-
rons are particularly frequent around the frontal
horns. The white matter is reduced in volume;
the ventricles are enlarged. An excess of choroid
plexus papillomas have been reported (53).
On CT scans, the callosal defect may have
no particularity, though frequently, the lateral
ventricles show asymmetrical enlargement sug-
gesting focal lesions. In partial posterior agene-
sis of the corpus callosum, ascension of the pos-
terior part of the third ventricle is often difficult
to demonstrate, even on close serial CT views;
deformation of the lateral ventricles is generally
identical to that observed in complete agenesis
of the corpus callosum. Peri ventricular hetero-
topias of the same density as the cerebral tissue
may be seen as small masses bulging into the
lateral ventricles (Fig. 1.4).
C) The orodigitofacial syndrome was first de-
lineated by Papillon-Leage and Psaume (45). It
is characterized by hypertrophy of the lingual
and buccal frenula, clefts in the tongue and the
gums, and polydactyly. Except for two other
reports, no neurologic problems, have been re-
ported. The syndrome seems to have dominant
transmission and be lethal to males (17). Neu-
rologic abnormalities have been reported in two
cases with intracranial cysts, one associated with
agenesis of the corpus callosum (17,62). In two
personal cases, we have observed complete
agenesis of the corpus callosum, with absence
of the anterior commissure, large median cysts,
and hemispheric dysplasia (Figs. 1.11, 1.12).
D) Agenesis of the corpus callosum asso-
ciated with agyria has been observed in one case
in the literature (28) and in two personal cases.
In these cases, the main clinical features were
severe mental retardation, seizures, microce-
phaly, and facial dysmorphia with narrow fore-
head and shallow temporal fossae. The EEG
was characteristic (see Sect. 1.4). CT scans
showed complete agenesis of the corpus callo-
sum, shallow cortical sulci, and an abnormally
thick and dense cortex. The sylvian fissure was
excessively large and remained perpendicular to
the vault (Fig. 1.18).
E) Lipoma of the corpus callosum is com-
bined with agenesis of the corpus callosum in
nearly half the cases (48%) (69). About 100 spo-
radic cases have been reported in the literature.
The main clinical features are mental retarda-
tion and partial motor seizures. Focal neu-
rologic signs such as hemiplegia, hemidystonia,
and increased intracranial pressure due to ob-
struction of the lateral ventricles have been re-
ported and may develop secondarily, sometimes
only in late adulthood. Hypertelorism is fre-
quent; association of a frontal cephalocele with
the lipoma herniated through the anterior fon-
tanelle was observed in two cases in the litera-
ture and in two personal cases (30, 31).
On plain skull films, the lipoma presents as
a mass of low density surrounded by arciform
calcifications projecting into the area of the cor-
pus callosum. On CT scan the lipoma has the
typical low density of adipose tissue. It is lo-
cated in the area of the corpus callosum, but
frequently extends into the choroid plexus, the
lateral ventricles, and the interhemispheric
fissure. The calcifications generally surround
the anterior part of the lipoma. Large calcifica-
tions in the adjacent part of the falx are fre-
quent. A CT scan risks underestimating the high
vascularity of the lipoma, which often sur-
rounds abnormal anterior cerebral vessels (68)
(Figs. 1.19-1.22).
F) Interhemispheric cysts are most often as-
sociated with agenesis of the corpus callosum.
The cyst may have two possible origins: It may
correspond to an abnormal third ventricle with
a large dorsal cyst, or it may represent a median
arachnoid cyst, which, through its mass effect
leads to progressive thinning and then agenesis
of the corpus callosum.
Clinical signs were often limited to isolated
macrocrania; mental retardation was moderate
in ten cases, severe in five cases, and absent in
seven cases. This contrasts with the fact that
mental retardation was present in 80 of 83 cases
of agenesis of the corpus callosum without an
interhemispheric cyst. The cyst was associated
in four cases with a missing anterior commissure
(Figs. 1.12-1.15), in one case with hamartoma
Malformations of the Corpus Callosum
of the tuber cinereum (Fig. 1.10), and in one
case with Aicardi's syndrome.
On CT scans, the presentation of agenesis
of the corpus callosum with a large dorsal cyst
(Fig. 1.9) and of interhemispheric arachnoid
cyst is usually identical, except in rare cases
where the arachnoid cysts are multiple or differ
in density from CSF, thus proving that they
do not communicate with the ventricles
(Fig. 1.16). Differential diagnosis is sometimes
possible on ventriculography, but relative steno-
sis of the foramen of Monro and of the aque-
duct of Sylvius, when combined with agenesis
of the corpus callosum with an interhemispheric
cyst, may be confused with noncommunicating
interhemispheric arachnoid cysts.
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Fig. 1.1 a-c. A 15-month-old boy with congenital cardio-
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pointing into the frontal interhemispheric fissure (a, b)
Fig. 1.2a-c. A 3-month-old boy with severe mental re-
tardation, marked hypotonia, slight microcephaly;
karyotype is normal. CT: agenesis of the corpus callo-
sum with typical compression of the anterior part con-
9
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and clear ascension of its roof between the lateral ventri-
cles. The distance between the lateral ventricles is in-
creased. The foramina of Monro are compressed and
stretched laterally
trasting with relative enlargement of the posterior part
of the lateral ventricles and ascension of the roof of
the third ventricle (b, c)
10 Cerebral and Cranial Malformations

Fig. 1.5a-d. A 5-year-old boy presenting with moderate I>

macrocrania and mental retardation. CT: agenesis of
the corpus callosum associated with a large posterior
fossa containing a cyst communicating openly with the
fourth ventricle (a) thus suggesting a Dandy-Walker
malformation. Ascension of the roof of the third ventri-
cle (d) is best observed in frontal view

<l Fig. 1.3a-d. A newborn boy with macrocrania. CT:

agenesis of the corpus callosum with large third ventricle
pointing into the anterior and superior frontal interhem-
ispheric fissures, compression of the anterior lateral ven-
tricle, and clear enlargement of the posterior portion
of the lateral ventricle. The frontal view (d) best shows
the ascension of the roof of the third ventricle

Fig. 1.4a-d. A 2-week-old girl with partial motor sei- callosum with enlargement of the lateral ventricles. The
zures. Multiple retinal lacunae and a dorsal hemiverte- irregular walls of the lateral ventricles (c) suggest peri-
bra associated with costal anomalies suggest the diagno- ventricular heterotopias
sis of Aicardi's syndrome. CT: agenesis of the corpus
Malformations of the Corpus Callosum 11

Fig. 1.6a-d. A 2-year-old boy with marked microce-

phaly, mental retardation, and pyramidal syndrome. CT
shows agenesis of the corpus callosum with enlargement
Fig. 1.5 a-d of the lateral ventricles (c, d) and marked hypoplasia
of the brainstem and cerebellum (a, b)

Fig. 1.7a-e. An 8-year-old

girl with cranial asymmetry,
mental retardation, partial
motor seizures, and beha-
vorial problems. CT: agene-
sis of the corpus callosum
associated with a particular
type of cranial and cerebral
hemiatrophy with a rotation
of the falx cerebri inserted
on the roof of the left orbit

Fig. 1.8a-e. A 3-year-old

girl with hypertelorism, cra-
nial asymmetry, mental re-
tardation, hemiplegia, and
general seizures. CT: agene-
sis of the corpus callosum
associated with a destruc-
tion of nearly the entire left
cerebral hemisphere with
rotation of the falx cerebri
12
Fig. 1.9a-d. A 6-month-old boy with evolutive macro-
crania (6 S.D.). Mental development and neurologic ex-
amination were normal at the last follow-up examina-
tion at the age of 4 years, after shunt operation. CT:
agenesis of the corpus callosum with large interhemi-
spheric cyst overlying the cerebral hemispheres, thus
simulating subdural hematoma. The cyst stays median
as far as the vault (frontal view: d) because of hypoplasia
of the falx cerebri
<l Fig. 1.10a-d. A 6-year-old boy with moderate macro-
Cerebral and Cranial Malformations
Fig. 1.11 a-d. A 7-year-old girl with orodigitofaciai syn-
drome presenting marked hypertelorism, macrocrania,
and focal motor seizures. Neurologic examination re-
veals slight mental retardation, hemiparesis, homony-
mous lateral hemianopsia, bilateral pyramidal syn-
drome, and speaking problems. CT: agenesis of the cor-
pus callosum with anterior and dorsal interhemispheric
cyst associated with a complex malformation of the left
cerebral hemisphere, including an intracerebral frontal
cyst (b, c) and a parenchymal calcification (d)
Fig. 1.12a-f. A 9-month-old girl presenting orodigitofa- c>
cial syndrome with macrocrania, hypertelorism, and se-
vere mental retardation. CT shows a large asymmetrical
sella turcica (a) agenesis of the corpus callosum with
absence of the anterior commissure, and a large
interhemispheric cyst leading to a complete sagittal cere-
bral cleft (e, f)
crania, precocious puberty, slight mental retardation, he-
miparesis, and seizures. CT: agenesis of the corpus callo-
sum with dorsal cyst deviated to the left side, where
it compresses the rolandoparietal region of the cerebral
hemisphere (c, d); cystic dilation of the cisterna magna
(a, b) with hypoplasia of the tentorium; large hamar-
toma of the tuber cinereum (a)
Malformations of the Corpus Callosum 13

Fig. l.13a-d. A 3-week-old boy with marked evolutive

macrocrania, normal neurologic examination. CT: agen-
esis of the corpus callosum with absence of the anterior
commissure (a, b) and large interhemispheric cyst. Metri-
zamide injected into the cyst was only detected 30 min
later in the lateral ventricles because of stenosis of the
foramen of Monro

Fig. 1.12a-f

Fig. 1.14a-d. A 4-year-old girl with microcephaly, severe [>

mental retardation, and frequent motor seizures. CT:
agenesis of the corpus callosum with absence of the ante-
rior commissure and large interhemispheric cyst overly-
ing the cerebral hemispheres. The tentorium (b, c) and
the falx cerebri are hypoplastic (d).
14 Cerebral and Cranial Malformations

Fig. 1.18a-d. A 2-year-old boy with severe mental retar- [>

dation, nystagmus, and infantile spasms followed by
partial motor seizures. CT shows agenesis of the corpus
callosum and agyria with thick dense cerebral cortex
presenting only rare and shallow circumvolutions

<l Fig. 1.15a-d. A 6-month-old boy with marked, evolu-

tive, asymmetrical macrocrania. CT shows multiple in~
terhemispheric cysts and agenesis of the corpus callo-
sum. Ventriculo- and cystography revealed that the cysts
were noncommunicating

Fig. 1.16a--c. A 3-year-old

boy with marked, asymmet-
rical macrocrania noted at
birth; neurologic examina-
tion was normal. CT: agen-
esis of the corpus callosum
associated with multiple
midline cysts. Different den-
sity values of the cysts prove
that they are not communi-
cating

Fig. 1.17 a--c. A 6-year-old

boy with slight macrocrania
and partial complex sei-
zures. Mental development
is normal. CT: agenesis of
the corpus callosum with
posterior noncommunicat-
ing interhemispheric cyst
Malformations of the Corpus Callosum
Fig. 1.18a-d
Fig. 1.19a-d. A 3-year-old boy with median depression
of the forehead and nose and marked hypertelorism.
Mental development is considered normal. CT: agenesis
of the corpus callosum (a-c); lipoma of the corpus callo-
sum extending into the upper interhemispheric fissure
(d), large calcification of the frontal falx cerebri, persis-
tent metopic suture (a-c)
15
Fig. 1.20a, b. A 40-year-old woman with dystonia since
the age of 6 years. CT shows a thin lipoma running
the whole length of the corpus callosum
Fig. 1.21 a-d. A 3-year-old girl with moderate mental re-
tardation, cerebellar syndrome, and oculomotor
apraxia. CT: lipoma of the anterior portion of the cor-
pus callosum with calcification of the falx cerebri (d)
associated with hypoplasia of the pons and of the cere-
bral peduncles with large fourth ventricle (a, b)
16
Fig. 1.22a-d. A 3-year-old girl who presented a cephalo-
cele herniating through the anterior fontanelle. The ce-
phalocele was operated on in the 1st year of life for
cosmetic reasons. The child has slight mental retardation
and partial motor seizures. CT shows a large lipoma
of the corpus callosum surrounded by curvilinear calcifi-
cations in its frontal portion and extending into the in-
terhemispheric fissure (d) and into the lateral ventricles
(b-d)
1.2 Prosencephaly: Arhinencephaly
Complete or partial lack of separation of the
prosencephalon into cerebral hemispheres re-
sults in a wide group of malformations ranging
from severe alobar prosencephaly to isolated
aplasia of the olfactory bulbs and tracts. A lack
of olfactory structures seems to be one of the
most constant features of this malformation
group, designated arhinencephaly for this rea-
son (13), but since parts of the rhinencephalon
may be found in most cases, the terms holopro-
sencephaly (5) or prosencephaly (17) are actual-
ly preferred.
Cerebral and Cranial Malformations
Fig. 1.23a-d. A 6-year-old girl with mental retardation
and complex craniofacial malformations, including me-
dian depression of the nose, hypertelorism, craniosynos-
tosis, and frontal cephalocele, which have led to multiple
operations. CT shows hypertelorism and a large lipoma
extending to the anterior fontanelle where the cephalo-
cele was implanted
The incidence of prosencephaly is difficult
to estimate. In conceptuses obtained through
induced abortion (14), it is about 4.12 per 1,000,
but most prosencephalic embryos die spontane-
ously, making the incidence of prosencephaly
only 0.0625 per 1,000 live births (15, 18).
Association of extracerebral malformations
- particularly of cardiac and skeletal malforma-
tions (5, 19) - with prosencephaly may indicate
a more precise etiology, such as trisomy 13, var-
ious other, more unusual chromosomal aberra-
tions (1, 5, 8) or Meckel-Gruber's pseudo-
trisomy 13 syndrome (7). Prosencephaly in the
absence of extracerebral malformations is rare
Prosencephaly: Arhinencephaly
in chromosomal aberrations, but frequent in in-
fants with a normal karyotype. Existence of a
higher incidence of prosencephaly in conjunc-
tion with maternal diabetes, viral infections, or
toxoplasmosis awaits confirmation (5). Familial
cases have been reported (9-11), and autosomal
recessive or dominant and multifactorial genetic
mechanisms have been invoked. Risk of recur-
rence for prosencephaly without chromosomal
defects or associated malformations is about
6% (18), but if endocrinal dysgenesis has oc-
curred, the risk may be as high as 25% (2).
The severity of the malformation may vary
within the same family (11) and even between
monozygotic twins (3).
Prosencephaly may be considered a defect
of cleavage. The most likely mechanism under-
lying prosencephaly seems to be a defective de-
velopment of the notochordal plate (4), which
greatly influences the growth of the brain and
the face. A lack of development or shortening
of the notochordal plate causes the lateral
movement of the optic and telencephalic vesicles
to be inhibited or incompletely stimulated. The
most severe form of prosencephaly, character-
ized by cyclopia, is thought to begin before
26 days of gestation (17). It is not known whether
minor forms of prosencephaly result from a less
severe disturbance at this stage or from an
anomaly arising at a later stage of gestation.
The different forms of prosencephaly can be
diagnosed and distinguished according to the
deformation of the ventricular system and the
cerebral hemispheres. Prosencephaly is best un-
derstood by comparing it with normal brain de-
velopment, where a vigorous increase in size of
the cerebral hemispheres leads to a posterior
displacement of the dorsal tip of each hemi-
sphere, such that the hemispheres fold over the
thin membranous roof of the third and lateral
ventricles along the choroid fissure. In alobar
prosencephaly, hemispheric development is re-
duced to a single hemisphere that does not fold
over. The thin membranous ventricular roof
bulges dorsally, forming the so-called dorsal
cyst. If one hemisphere develops more fully, it
may fold over, either laterally in two pseudo-
hemispheres with a median dorsal cyst, or form-
ing a single, complete telencephalic ventricle.
17
Prosencephaly with a median dorsal cyst
may be difficult to distinguish from agenesis of
the corpus callosum with an interhemispheric
cyst (17). Prosencephaly with a single, closed
telencephalic ventricle is referred to as "ball"
alobar prosencephaly (6). The interhemispheric
fissure may be partially developed in its occipi-
tal portion - occasionally in its frontal portion
(7) - and the ventricle may show tow separate
posterior horns, giving it a horseshoe appear-
ance typical of semilobar prosencephaly. In lo-
bar prosencephaly, the interhemispheric fissure
is apparently complete, but section exhibits no
cortical interruption in the depth of the inter-
hemispheric fissure, the cortex extending with-
out break from one hemisphere to the other.
In less severe forms of prosencephaly, especially
those associated with a trigonocephaly, the
frontal lobes may be hypoplastic.
Olfactory aplasia or hypoplasia is common,
though not constant in prosencephaly, and for
this reason this group of malformations was ini-
tially referred to as arhinencephaly (13). In min-
imal forms, olfactory aplasia may be isolated
or associated with hypoplasia of the anterior
pituitary lobe, the adrenal glands, or the thy-
roid. The most severe type of cerebral deformity
in prosencephaly consists of an abnormally
small brain, weighing less than 100 g in alobar
prosencephaly.
Cytoarchitectonic anomalies are particularly
marked in the severe forms of prosencephaly,
where most of the cortex may have the structure
of Ammon's horn or of the entorhinalis or pre-
pyriformis areas. In such cases, the neocortex
is observed only in small areas of the anterior
portion of the holosphere (20). The corpus stria-
tum may be absent, and the thalamus fused on
the midline, with obliteration of most of the
third ventricle (7).
The cerebral deformities of prosencephaly
are accompanied by typical cranial and facial
malformations. Cyclopia is the most severe fa-
cial deformity, involving fusion of the orbits and
eyeballs and a small proboscis projecting above
the orbit. A lesser deformity, ethmocephaly is
characterized by marked hypotelorism, micro-
phthalmia, and replacement of the nose by a
small proboscis. In cebocephaly, hypotelorism
18
is less pronounced, and the area between the
eyes is flattened, showing one or two nostrils.
These three forms are not compatible with life.
Hypotelorism is the most frequent craniofacial
malformation observed in cases surviving the
neonatal period; hypertelorism has not been ob-
served in any proven form of prosencephaly.
Trigonocephaly with pointed forehead may sug-
gest the possibility of prosencephaly, especially
when the metopic suture persists (6). Median
facial clefts, particularly when associated with
hypotelorism, are not infrequently linked with
prosencephaly (12, 16).
The clinical presentation of prosencephaly
is extremely heterogenous. Facial, visceral, and
skeletal malformations may suggest this diagno-
sis in a newborn with severe neurologic symp-
toms, such as microcephaly, seizures, axial hy-
potonia, and spasticity of the limbs. Micro-
crania is most frequent in major forms of pro-
sencephaly, though macrocrania secondary to
distension of the dorsal cyst may be observed.
In minor forms, mental retardation or isolated
endocrinal dysfunction may represent the only
clinical signs.
Diagnosis is based on neuroradiology. Skull
radiographies may show osseous hypotelorism
and a small sella turcica (6). CT is the best meth-
od for examining the cerebral malformations
and has been proven superior to pneumoence-
phalography and angiography.
In alobar prosencephaly, CT shows a nor-
mal posterior fossa. The cerebral peduncles are
largely fused with the posterior face of the tha-
lami (Figs. 1.24, 1.25). The third ventricle is
barely apparent, sometimes invisible, and opens
dorsally into a wide cavity called the dorsal cyst
corresponding to the cavity of the fused lateral
ventricles. The prosencephalon forms the anteri-
or wall of the dorsal cyst and is placed like a
shell of cerebral tissue against the anterior tem-
poral and the frontal vaults. There is no identifi-
able interhemispheric fissure or falx cerebri
(Figs. 1.24-1.26).
In semilobar prosencephaly, the interhemi-
spheric fissure may exist posteriorly. The tha-
lami are fused, and the barely observable third
ventricle opens into a lateral ventricle of horse-
shoe configuration (Figs. 1.27, 1.28).
Cerebral and Cranial Malformations
Diagnosis of lobar prosencephaly may be
difficult. The third ventricle is generally small
and opens dorsally into a single telencephalic
ventricle. The interhemispheric fissure is visible
(Fig. 1.29). Neuroradiologic diagnosis of olfac-
tory aplasia might be possible with CT using
intrathecal metrizamide injection, but we have
found no data in the literature and have been
unable to arrive at a positive diagnosis with any
personal cases.
References
1. Bain AD, Gauld JK (1963) Multiple congenital ab-
normalities associated with ring chromosome. Lan-
cet 2: 304-305
2. Begleiter ML, Harris DJ (1980) Holoprosencephaly
and endocrine dygenesis in brothers. Am J Med
Genet 7:315-318
3. Burck U, Hayek HW, Zeidler U (1981) Holoprosen-
cephaly in monozygotic twins. Clinical and com-
puter tomographic findings. Am J Genet 9: 13-17
4. Cohen MM, Jirasek JE, Guzman RT et al. (1971)
Holoprosencephaly and facial dysmorphia: noso-
logy, etiology and pathogenesis. Birth Defects
7:125-135
5. DeMyers W, Zeman W (1963) Alobar holoprosence-
phaly (arrhinencephaly) with median cleft lip and
palate: clinical, electroencephalographic and noso-
logic considerations. Confin Neurol23: 1-36
6. Fitz CR (1983) Holoprosencephaly and related enti-
ties. Neuroradiology 25: 225-238
7. Friede RL (1975) Developmental neuropathology.
Springer, Vienna New York, pp 280-297
8. Gardner R, McCranor H, Parslow M et al. (1974)
Are lq + chromosomes harmless? Clin Genet
6:383-393
9. Hintz RL, Menking M, Sotos JF (1968) Familial
holoprosencephaly with endocrine dysgenesis. J Pe-
diatr 72: 81-87
10. Khan M, Rozdilsky R, Gerrard JW (1970) Familial
holoprosencephaly. Dev Med Child Neurol
12:71-76
11. Klopstock A (1921) Familiiires Vorkommen von
Cyklopie und Arhinencephalie. Monatsschr Ge-
burtsh Gyniikol 56: 59-71
12. Kolte W, Kunze P (1971) Alobiire Holoprosence-
phalie (Arhinencephalie) mit medianer Lippenkie-
ferspalte und normalem Karyotyp. Zentralbl AUg
Pathol114:173-184
13. Kundrat H (1882) Arhinencephalie als typische Art
von Missbildung. Leuschner und Lubensky, Graz
14. Matsunaga E, Shiota K (1977) Holoprosencephaly
in human embryos: epidemiologic studies in
150 cases. Teratology 16:261-272
Prosencephaly: Arhinencephaly 19

15. Myrianthopoulos NC, Chung CS (1974) Congenital
malformations in singletons: epidemiologic survey.
Birth Defects 10:1-58
16. Patel H, Dolman CL, Byrne MA (1972) Holopro-
sencephaly with median cleft lip. Clinical, pathologi-
cal and echoencephalographical study. Am J Dis
Child 124:217-221
17. Probst FP (1979) The prosencephalies. Springer,
Berlin Heidelberg New York
18. Roach E, DeMyer W, Conneally PM et al. (1975)
Holoprosencephaly: birth data, genetics and demo-
graphic analysis of 30 families. Birth Defects
11 :294-313
19. Robain 0, Gorce F (1972) Arhinencephalie. Etude
clinique, anatomique et Hiologique de 13 cas. Arch
Fran« P6diatr 29: 861-879
20. Yakovlev PL (1959) Pathoarchitectonic studies of
cerebral malformations. III. Arhinencephalies (Ho-
lotelencephalies). J Neuropathol Exp Neurol
18:22-55

L.
Fig. 1.24a-c. Girl of 6 months with chronic hyponatre-
mia (between 110 and 120 mEqjl) since the age of
1 month and functional renal insufficiency attributed to
unilateral renal hypoplasia detected at urography. Since
the age of 5 months, she has presented evolutive macro-
crania, apathy, episodes of opisthotonos, with pronation
of the upper limbs. There is no patent malformation;
karyotype is normal. CT shows alobar prosencephaly
with nearly completely fused thalami (b) and a large
dorsal cyst (c). The prosencephalon occupies a small area
of the anterior temporal fossa (a, b) and the low frontal
region

Fig. 1.25a-d. A 13-month-old boy with severe mental [>

retardation, axial hypotonia, and bilateral pyramidal
syndrome. CT: alobar prosencephaly with "cup-like"
dorsal cyst (c, d). Prosencephalon appears more devel-
oped than in the case shown in Fig. 1.1
20
Fig. 1.26a-d. A 5-month-old girl with macrocrania
(4 S.D.), axial hypotonia, and mental retardation. CT:
transitional form between lobar and semilobar prosen-
cephaly. There is a large dorsal cyst as in alobar prosen-
cephaly, but also a rudimentary separation between the
two frontal lobes with a frontal interhemispheric fissure
(d) and a shallow sagittal wall (c) between the largely
communicating frontal horns
Fig. 1.28a~. Boy of 16 months with bilateral palatine
and labial fissure, tetraplegia, and severe mental retarda-
tion. CT shows semilobar prosencephaly with typical
Cerebral and Cranial Malformations
Fig. 1.27 a-d. Newborn boy with microcephaly, large pa-
latine and labial fissures, bilateral microphthalmia, and
hypotelorism. He presents axial hypotonia, absence of
archaic reflexes, and adrenal insufficiency with very low
serum cortisol, hypoglycemia, and hydroelectrolytic im-
balance. CT shows semilobar prosencephaly with micro-
phthalmia, hypotelorism and an apparently empty sella
turcica (a); the thalami are fused (b); the lateral ventri-
cles have a typical horseshoe configuration with separa-
tion of the occipital horns by an occipital interhemi-
spheric fissure (c, d)
horseshoe configuration of the single telencephalic ven-
tricle presenting two posterior horns. The frontal lobes
are fused
Absence of the Septum Pellucidum
Fig. 1.29a-c. A 2-year-old girl with severe mental retar-
dation, microcephaly, and bilateral pyramidal syn-
drome. There is slight dysmorphism with coloboma and
narrow forehead. CT shows lobar prosencephaly with
1.3 Absence of the Septum Pellucidum
The septum pellucidum is a thin membrane
stretching from the inferior corpus callosum to
the fornix and separating the frontal horns. Sep-
tal cysts forming between the two sheets com-
prising the septum pellucidum are frequent in
infancy and have no pathologic significance.
Rupture of the septum may be observed in se-
vere hydrocephalus. In prosencephaly, the sep-
tum is absent by definition; in agenesis of the
corpus callosum, the septum may be absent or
divided into two sheets that delimit the supero-
interior part of the lateral ventricles.
Absence of the septum pellucidum may be
isolated; this occurrence results in a single telen-
cephalic ventricle with increased vertical dimen-
sions between the fornix and the corpus callo-
sum (5). Isolated absence of the septum pelluci-
dum may be associated with mental retardation
or epilepsy, but may also have no clinical signifi-
cance at all (1, 8).
In three personal observations of isolated
septal agenesis, two patients aged 15 and
18 years were examined because of isolated sei-
zures. The neurologic findings were normal. The
third patient was seen at the age of 4 months
because of infantile spasms; he had severe men-
tal retardation, facial dysmorphism, and his
karyotype was 46 XY, 19 p(-).
21
narrow third ventricle (a), fused lateral ventricles with
identifiable anterior (a) and posterior (c) horns. Anterior
and posterior interhemispheric fissure is clearly visible
More often, the absence of the septum is
linked to other abnormalities such as:
- Porencephalic cysts with heterotopias and ab-
normalities of gyration, as in Gruner's syn-
drome (1, 7, 11)
Optic nerve hypoplasia or De Morsier's syn-
drome (5, 7, 12, 15, 19)
Hypothalamic anomalies, especially those
with growth hormone deficiency or panhypo-
pituitarism: Hoyt, Kaplan, and Grumbach
syndromes (9, 13, 14)
The features differentiating these syndromes
remain vague:
- Patients with porencephalic cysts may also
have optic nerve hypoplasia.
Optic nerve hypoplasia with hypopituitarism
is not necessarily associated with a septal de-
fect.
Association of septal agenesis and hypopla-
sia of the optic nerve, the chiasm, and the infun-
dibulum suggests a developmental disturbance
occurring as early as the 4th-6th week of gesta-
tion. Heterotopias of gray matter and anomalies
of gyration may appear later by 3--4 months
of gestation (16) and may be considered second-
ary to the midline defect, as in Aicardi's syn-
drome. Porencephalic cysts are considered by
some authors (21, 22) as resulting from develop-
mental arrest, but most authors suggest that an
early circulatory disturbance is the cause (1, 3,
10, 18).
22
1.3.1 Septo-Optic Dysplasia
Septo-optic dysplasia combines agenesis of the
septum with a primitive optic ventricle and hy-
poplasia of the optic nerves, chiasm, and infun-
dibulum (5). The cases mentioned in the litera-
ture are sporadic; no familial observations have
been reported. Young maternal age (17) and
maternal diabetes (6) have been noted as pre-
disposing factors. Frequent symptoms are ap-
nea, hypotonia, and seizures secondary to hy-
poglycemia in the neonatal period (9, 19). Con-
genital amblyopia and nystagmus are generally
diagnosed in the 1st year of life (14). Fundus-
copic examination discloses double optic disc
margins: an outer true margin shown by choroi-
dal pigment and an inner hypoplastic margin
containing hypoplastic nerve tissue (20). Col-
oboma is occasionally observed (13). Short stat-
ure usually becomes manifest later as a conse-
quence of hypopituitarism (14) that may range
from isolated growth hormone deficiency to
panhypopituitarism (2). Diabetes insipidus (19)
and sexual precocity (15) have also been ob-
served. Association of optic nerve hypoplasia
with hypopituitarism does not necessarily sig-
nify septal agenesis (19). Mental development
and neurologic examination are usually normal,
but cases involving hemiplegia (13), diplegia
(12), and seizures have (19) been reported and
may represent forms overlapping with Gruner's
syndrome.
Diagnosis is currently based on funduscopic
examination and CT, which clearly shows the
absence of the septum pellucidum and the char-
acteristic deformation of the anterior horns
(Fig. 1.30).
Observation of optic nerve hypoplasia by
CT is coincidental and does not replace fundus-
copic examination.
1.3.2 Septal Agenesis with Porencephalies
and Heterotopias
Sylvian porencephalies associated with septal
agenesis were first described by Gruner (7, 11)
and recently reviewed by Aicardi (1). This syn-
drome includes septal agenesis, porencephaly,
Cerebral and Cranial Malformations
heterotopias of the gray matter, and microgyr-
ias. Septal agenesis leading to a single tel-
encephalic ventricle is not total, and microscop-
ic examination regularly reveals septal rem-
nants. Porencephaly is very often bilateral and
grossly symmetrical, joining the sylvian fissures
to the lateral ventricle. It may vary in size from
a narrow, nearly undetectable channel to a wide
cavity. The heterotopias are usually located in
the callosocaudal angle and around the porence-
phaly. Microgyri surround the rim of the poren-
cephalic cyst, but may be more extensive and
alternate with areas of pachygyria. While this
syndrome is considered by some authors to be
a result of developmental arrest (21, 22), most
authors suggest an early circulatory disturbance
(1, 3, 18), occurring before the end of neuronal
migration, as the cause, which may account for
the secondary development of heterotopias and
anomalies of gyration.
The clinical presentation of this syndrome
may be extremely variable, but most often the
neurologic symptoms are severe (1). In a per-
sonal series of 20 cases, mental retardation was
marked in ten cases and mild or absent in three
cases. Hemiplegia was noted in 12 cases, repre-
senting about 4% of the cases in our series of
congenital hemiplegia cases. Di- or tetraplegia
was observed in six cases, macrocrania in four
cases, and microcephalus in two cases. Seizures
were most often of the generalized type (four
cases) and sometimes of the focal motor type
(three cases), while in two cases they corre-
sponded to infantile spasms. Optic nerve hypo-
plasia with amblyopia was noted in only two
cases. The severity of clinical signs appeared not
to differ very much from that described in pre-
vious series where diagnosis had been based on
anatomopathology or on pneumoencephalogra-
phy.
Diagnosis is currently based on CT scans
showing the septal defect and the characteristic
deformation of the fused frontal horns. Their
interior, callosal angle is flattened, their postero-
exterior or caudal angle has a round appearance
(Figs. 1.30, 1.31). Heterotopias may be recog-
nized on ventricular deformations, sometimes
- especially when they are large - because they
have a slightly higher density than the surround-
Absence of the Septum Pellucidum
ing white matter (Figs. 1.31, 1.33, 1.34). Poren-
cephalies may be presented in two characteristic
ways:
They may appear as a narrow, barely visible
channel between the lateral ventricle and the
sylvian fissure; sometimes, they may attract
attention only because of focal enlargement
of the lateral ventricle and the slightly in-
creased density of the surrounding cerebral
tissue, which suggests heterotopias
(Fig. 1.32).
More often, they appear as a large cavity oc-
cupying a sylvian region or nearly an entire
cerebral hemisphere; they are then distin-
guishable by their round borders and by the
fact that they frequently form a crescent-like
communication with the lateral ventricle
(Figs. 1.33-1.35).
Porencephalies were bilateral in seven cases
and apparently unilateral in six cases; they were
always located in the sylvian region and nearly
always extended throughout the entire cerebral
mantle. In contrast, antenatal porencephalies
without septal agenesis are randomly distrib-
uted and often involve only part of the thickness
of the cerebral mantle.
References
1. Aicardi J, Goutieres F (1981) The syndrome of ab-
sence of the septum pellucidum with porencephalies
and other developmental defects. Neuropediatrics
12:319-329
2. Billson F, Hopkins IJ (1972) Optic nerve hypoplasia
and hypopituitarism. Lancet 1 : 905
3. Dekaban A (1965) Large defects in cerebral hemi-
sphere associated with cortical dysgenesis. J Neu-
ropathol Exp Neurol24: 512-530
4. DeMorsier G, Mozer 11 (1935) Agenesie complete
de la commissure calleuse et troubles du developpe-
ment de l'hemisphere gauche avec hemiparesie
droite et integrite mentale. Schweiz Arch Neurol
Neurochir Psychiatr 35: 64-80
5. De Morsier G (1956) Agenesie du septum lucidum
avec malformation du tractus optic (la dysplasie
septo-optique). Schweiz Arch Neurol Neurochir
Psychiatr 77: 267-293
23
6. Donat JFG (1981) Septo-optic dysplasia in an infant
of a diabetic mother. Arch Neurol 38: 590--591
7. Feld M, Gruner J (1957) Sur deux cas de porence-
phalie hemispherique malformative associee a une
agenesie septale. Presse Med 65: 329-332
8. Friede RL (1975) Develomental neuropathology.
Springer, Vienna, p 295
9. Gendrel D, Chaussain JL, Job JC (1981) Les hypo-
pituitarismes congenitaux par anomalies de la ligne
mediane. Arch Fran9 Pediatr 38: 227-232
10. Gross H, Simanyi M (1977) Porencephaly. In: Vin-
ken PJ, Bruyn GW (eds) Handbook of clinical
neurology. vol 30. North Holland, Amsterdam,
pp 681-692
11. Gruner J (1959) Sur quelques malformations cere-
brales developpees pendant la vie foetale. In: Heuyer
G, Feld M, Gruner J (eds) Les malformations con-
genitales du cerveau. Masson, Paris
12. Hale BR, Rice P (1974) Septo-optic dysplasia:clini-
cal and embryological aspects. Dev Med Child Neu-
roI16:812-817
13. Harris RJ, Haas L (1972) Septo-optic dysplasia with
growth deficiency (DeMorsier syndrome). Arch Dis
Child 47:973-976
14. Hoyt WF, Kaplan SL, Grumbach MM et al (1970)
Septo-optic dysplasia in pituitary dwarfism. Lancet
1:893-894
15. Huseman LA, Kelch RP, Hopwood NJ (1978) Sex-
ual precocity in association with septo-optic dyspla-
sia and hypothalamic hypopituitarism. J Pediatr
92:748-753
16. Lemire RJ, Loeser JD, Leech RW et al. (1975) Nor-
mal and abnormal development of the human ner-
vous system. Harper and Row, Hagerstown
17. Lippe B, Kaplan SA, La Franchi S (1979) Septo-
optic dysplasia and maternal age. Lancet 2: 92-93
18. Lyon G, Robain 0 (1963) Etude comparative des
encephalopathies circulatoires prenatales et parana-
tales (hydranencephalies, porencephalies et encepha-
lopathies kystiques de la substance blanche). Acta
Neuropathol (Berl) 9: 79-98
19. Patel H, Tze WJ, Crichton JV et al. (1975) Optic
nerve hypoplasia with hypopituitarism: septo-optic
dysplasia with hypopituitarism. Am J Dis Child
129:175-180
20. Sanders MD, Wybar KC Wilson J et al. (1970)
Septo-optic dysplasia. Lancet 2: 1991
21. Yakovlev PI, Wadsworth RC (1946) Schizencepha-
lies: A study of the congenital clefts in the cerebral
mantle. J N europathol Exp N eurol 5: 116--130,
169-206
22. Zimmermann RA, Bilaniuk L T, Grossman RJ
(1983) Computed tomography in migratory dis-
orders of the human brain development. Neurora-
diology 25: 257-263
24 Cerebral and Cranial Malformations

Fig. 1.30a, b. A 13-year-old boy who suffered brief, iso-

lated episodes of clonic seizures. CT: absence of the sep-
tum pellucidum with characteristic deformation of the
frontal horns and flattening of the callosal angle

Fig. 1.31 a-c. A 6-year-old

boy with slight mental retar-
dation and congenital-he-
miplegia. CT: absence of
septum pellucidum, large
porencephalic cyst in the
right sylvian region with
communication between the
right lateral ventricle and
the pericerebral spaces

Fig. 1.32a-d. A 12-month-old girl with severe encepha-

lopathy, tetraparesis, and frequent seizures. CT: bilater-
al barely visible proencephalic cysts in the sylvian re-
gions, absence of septum pellucidum
Absence of the Septum Pellucidum
Fig. 1.33a-c. A 3-year-old girl with severe mental retar-
dation, tetraparesis, and frequent seizures. CT: septal
dysplasia, large expanding porencephalic cyst involving
nearly the entire left sylvian region, small porencephalic
Fig. 1.34a-d. A 2-year-old girl with right hemiplegia,
mental retardation, and frequent seizures. CT: large, ex-
panding porencephalic cyst of the left sylvian region,
the right sylvian fissure is abnormally large and flat,
with abnormally thick and dense cortex surrounding it,
suggesting cortical dysplasia; absence of septum pelluci-
dum
25
cleft in the right frontal region, and a larger porence-
phalic cyst in the right parietal region; the cortex in
the vicinity of the latter shows a higher density than
normal
Fig. 1.35a-d. A l-year-old boy with congenital hemiple-
gia, apparently normal development, and asymmetrical
macrocrania. CT: large porencephalic cyst occupying
nearly the entire left cerebral hemisphere, with thinning
and bulging of the vault; porencephalic cyst of the right
temporoparietal region; absence of the septum pelluci-
dum
26 Cerebral and Cranial Malformations

Fig. 1.36a-c. A 7-month-old girl with infantile spasms, and high density of the cortex in the sylvian regions
mental retardation, and optic nerve hypoplasia. CT: ab- (b, c); heterotopy along the external angle of the left
sence of the septum; barely visible, porencephalic cleft frontal horn
in the right temporal region (b, c); abnormal thickness

1.4 Malformations of the Cerebral cases, they may be suspected on the basis of
Cortex typical clinical signs, as in the Walker, Miller-
Dieker, and Fukuyama syndromes, but in most
Malformations of the cerebral cortex are fre- cases nonspecific clinical signs and apparently
quently associated with midline abnormalities normal neuroradiologic examinations do not
such as: permit a precise diagnosis. Generally, focal ar-
eas of polymicrogyria, heterotopias, or even dif-
Prosencephaly in which the cerebral cortex
fuse nodular cortical dysplasia are anatomo-
has a reduced surface and marked structural
pathologic observations (8). Detection of corti-
abnormalities. In alobar prosencephaly, the
cal malformations will progress with the help
cytoarchitectonic structure of the larger part
of more precise descriptions of the clinical enti-
of the cortex resembles that of either the ol-
ties and the technical advances of high-resolu-
factory cortex or the area entorhinalis (28).
tion CT and nuclear magnetic resonance.
- Agenesis of the corpus callosum, which may
coexist with heterotopias of gray matter and
polymicrogyria, especially in Aicardi's syn-
1.4.1 Agyria-Pachygyria
drome. Association with agyria has been ob-
served in the literature (15) and in two per-
Agyria or lissencephaly is characterized by a
sonal cases (see Sect. 1.1.2).
completely smooth hemispheric surface, while
- Septal dysplasia, in which, when occurring in
in pachygyria, gross inspection discloses broad
Gruner's syndrome, the porencephalic cyst is
gyri separated by shallow sulci. The brain
usually surrounded by an area of pachy- and
weight is below normal. The temporal and fron-
or polymicrogyria, and periventricular
tal lobes are hypoplastic, separated by a shallow
heterotopias in the callosocaudal angle are
sylvian fissure with a lack of opercularization,
frequent (see Sect. 1.3).
and this cerebral abnormality leads to a charac-
- Walker syndrome, which may be associated
teristic craniofacial dysmorphism including a
with agyria and heterotopias (12, 22).
narrow forehead and hollow temporal fossae.
It seems probable that, more frequently, Although the surface features of agyria or
cortical malformations are isolated. In some pachygyria may be similar to that of polymicro-
Malformations of the Cerebral Cortex
gyria, their microscopic organization is distinc-
tive. Agyric and pachygyric cortices are thicker
than normal and have an abnormal, four-
layered structure consisting of (from the surface
to the lateral ventricle) (a) a molecular layer;
(b) a superficial layer of nerve cells which may
be unusually large; (c) a tangential plexus of
myelinated fibers ; (d) a thick cell layer in which
the nerve cells lack orderly arrangement. The
white matter is reduced, the claustrum and cap-
sula extrema are absent, but the putamen, palli-
dum, and thalamus show only minor abnormal-
ities. The cerebral ventricles are enlarged.
Agyria commonly coexists with heterotopias of
the inferior olivary nuclei of the medulla oblon-
gata.
The similarity between agyria and neuronal
migration patterns seen in fetal brains suggests
arrested migration of the neuroblasts from their
periventricular matrix to the cortical surface. It
seems that the neurons of the second phase of
migration, which eventually form the superficial
cortical layers, are unable to pass beyond the
first wave, so that the large cortical neurons nor-
mally forming the deep layers remain superficial
(11). The underlying cause seems rather specific,
and nonspecific insults such as radiation or
toxic chemical substances fail to induce agyria
(8).
Most cases of agyria or diffuse pachygyria
are sporadic, and this was also the case for the
21 observations in our series. Eight families with
at least two affected siblings have been reported
in the literature (3,5,9, 18), suggesting the pos-
sibility of autosomal recessive inheritance in
some cases. Various observations of chromo-
somal aberrations, particularly of a 17p13 de-
fect, have been published (4), some being fami-
lial due to translocation (3).
Clinical signs vary widely according to the
severity of the malformation. Complete agyria
results in a lack of psychomotor development,
microcephaly, axial hypotonia, pyramidal signs,
and seizures. In less severe cases, slow mental
development and seizures are usual. Seizures ap-
pear in 75% of the cases between the 2 and
6 month (5) or, rarely, in the neonatal period
(4). They usually consist of infantile spasms,
sometimes of partial clonic seizures (5). Chil-
27
dren with agyria have a typical facies with nar-
row forehead and hollowing of the temporal
fossae due to the poor development of the fron-
tal and temporal lobes. Congenital malforma-
tions of the heart and extremities may coexist
with agyria and have been claimed as evidence
of a risk for familial recurrence (3). However,
a review of the recent literature seems not to
confirm this hypothesis (5). The EEG is charac-
terized by high-amplitude, rhythmic alpha - and
possibly in younger patients - theta activity.
There is no physiologic activity, and only mild
differences in the tracing during sleep, where
associated slow waves appear. This tracing is
very different from that of hypsarrythmia and
thus very useful in the diagnosis of agyria.
The association of encephalopathy with a
characteristic craniofacial dysmorphism has
been described as the Miller-Dieker syndrome
(4, 14, 24), which includes agyria and seems to
result from a transmitted chromosomal trans-
location (4). These symptomes were exident in
most of the 21 cases of our series all of which
were sporadic. The same symptoms are not nec-
essarily associated with agyria, but may coexist
with polymicrogyria and other developmental
abnormalities (24).
The CT appearance of agyria-pachygyria is
typical and has been described in several publi-
cations (9, 14, 21, 30). The cortex is smooth
and abnormally large. In rare cases (Fig. 1.40),
several cortical layers may be observed: a thin,
dense, external layer followed successively to-
wards the lateral ventricles by a thin layer of
edematous density; a thick, dense layer, which
may correspond to the fourth layer at histologic
examination; and a large layer of edematous
density corresponding to the atrophic white
matter. The difference in density between the
thick cortex and the white matter may be so
great as to account for why agyria has been
classed erroneously by several authors into the
group of leukodystrophies (1). The malforma-
tion of the cortex may be observed easily, as
cerebral atrophy usually coexists with enlarge-
ment of the ventricular system and the "peri-
pheric" spaces. In cases where diagnosis re-
mains doubtful, corticotherapy, which is also
the treatment of infantile spasms, may induce
28
sufficient cerebral shrinkage to allow the correct
analysis of the cerebral mantle.
The smoothness of the cerebral surface is
exaggerated by a concomitant absence of oper-
cularization and a shallow, vertical sylvian
fissure separating the hypoplastic frontal and
temporal lobes (Figs. 1.37-1.39). In less marked
forms of agyria-pachygyria, the cerebral sulci
are more numerous and more pronounced, but
they always remain shallow (Fig. 1.40); the syl-
vian fissure is more profound, but is always per-
pendicular to the vault and open, with a rigid
appearance (Fig. 1.38). Hypoplasia of the fron-
tal and temporal lobes may be lacking.
In two of 21 cases, diffuse agyria-pachygyria
was linked to agenesis of the corpus callosum
(see Sect. 1.1, Fig. 1.23). In one case, a large
calcification occupied the anterior part of the
corpus callosum (Fig. 1.40).
Focal agyria-pachygyria has been observed
in ten cases:
- In a l-year-old boy with severe mental retar-
dation, the frontal and temporal lobes had
a smooth pachygyric appearance that con-
trasted with profound, though coarse gyri in
the parieto-occipital region. In this case, par-
tial agyria coexisted with hypoplasia of the
cerebellum and the brain stem (Fig. 1.42).
- In a girl with septal dysplasia (see Fig. 1.43
and Sect. 1.3), the cortex in both sylvian re-
gions had a pachygyric appearance with a
small, unilateral porencephalic cyst.
- In eight cases of hemimegalencephaly the
cortical lesions concerned an entire cerebral
hemisphere (see Sects. 1.13 and 2.5). In these
observations the clinical signs appeared in the
first months of life and consisted in focal sei-
zures and infantile spasms, followed by he-
miplegia and mental retardation. CT showed
hypertrophy of a single cerebral hemisphere
with enlarged lateral ventricle and thick,
dense cortex (Figs. 1.41, 1.43,2.32).
1.4.2 Walker or HARD ± E Syndrome
Walker syndrome variously comprises ventricu-
lar enlargement, malformation of the cerebral
mantle, essentially with pachygyria or micro-
gyria (2), and ocular malformations including
Cerebral and Cranial Malformations
possible assymmetrical corneal opacities, colo-
boma, retinal nonattachment, microphthalmia.
Since the occurrence of encephalocele is incon-
stant, the mnemonic HARD ± E for hydroce-
phalus, agyria, retinal dysplasia, and encephalo-
cele has been proposed. In fact other cerebral
malformations may be associated with it, in par-
ticular, those affecting the posterior fossa: cere-
bellar hypoplasia or agenesis and Dandy-
Walker anomaly (12, 22). The great phenotypic
variability of this syndrome may be particularly
striking in siblings (19).
The recurrence of the syndrome in the si-
blings of normal parents in five families sug-
gested either autosomal recessive inheritance or,
more likely, a maternally transmitted infectious
disease. The karyotype was normal in all cases.
In the rare patients surviving the 1st year, a
lack of mental development is constant.
CT may demonstrate hydrocephalus with a
smooth cerebral cortex (27), though detection
of agyria in evolutive hydrocephalus, in which
the distended brain mantle closely joins the
vault, appears difficult in our experience. In a
personal case of Walker syndrome, CT revealed
marked dilation of the posterior half of the lat-
eral ventricles that contrasted with a relatively
normal anterior half. Detection of agyria with
a smooth cortex in the frontal region was possi-
ble because of a large accumulation of pericere-
bral fluid of CSF density. The cerebellum was
hypoplastic, especially in its vermian part
(Fig. 1.44). A definite diagnosis, based on fun-
duscopic examination, disclosed retinal dyspla-
SIa.
1.4.3 Congenital Muscular Dystrophy with
Involvement of the Central Nervous System
Cerebral malformations in conjunction with
congenital muscular dystrophy are unusual.
They were first described by Jervis (13) and
seem particularly frequent in Japan, where they
constitute the second most prevalent form of
progressive muscular dystrophy (17). They rep-
resent a particular clinicopathologic syndrome
with autosomal recessive inheritance (16, 17,
29). Clinical signs include mental retardation,
progressive muscle weakness, joint contractures,
Malformations of the Cerebral Cortex
and seizures in half of the cases. Pachygyria and
polymicrogyria are the most consistent neu-
ropathologic findings, but fusion of the frontal
lobes, hydrocephalus, periventricular cysts, op-
tic nerve atrophy, hypoplasia of the pyramidal
tracts, and inflammatory changes in the lepto-
meninges have been described in isolated cases
(17,29).
CT presentation is habitually that of agyria-
pachygyria with its possible associated malfor-
mations (16, 29).
In apparently different syndromes, congeni-
tal muscular dystrophy may be associated with
hydrocephalus and ocular abnormalities (23) or
with demyelination and developmental abnor-
malities in the cerebral and cerebellar cortices
(6).
1.4.4 Cerebrohepatorenal Syndrome
of Zellweger
Zellweger's syndrome is a metabolic disease in
which a lack of peroxysomes is evident on elec-
tronmicroscopic examination ofliver tissue (10),
but there are also cerebral lesions that have an
essentially malformed appearance (8). In con-
trast to the microcephaly usually seen in pachy-
gyric brains, the brains of patients with Zell-
weger's syndrome may have a greater than
normal weight and show a cortical pattern of
pachygyria or microgyria (25) resulting from
abnormal neuroblast migration (7). Sudano-
philic leukodystrophy in association with these
malformations has been reported in one case
(20).
The essential clinical features of cerebrohe-
patorenal syndrome are generalized hypotonia,
pyramidal signs, depressed tendon reflexes, sei-
zures, multiple renal cortical cysts, and hepatic
enlargement with fibrosis and hemosiderosis.
Children with this syndrome have a characteris-
tic facies with a high forehead, hypertelorism,
and abnormal ear helices; other malformations
include cataract or glaucoma and cardiac anom-
alies (20). Electroretinography is abolished. Ra-
ised levels of very long fatty acids in the plasma,
as in neonatal adrenoleukodystrophy, permit
prenatal diagnosis. Infants generally die in the
first weeks or 1st year of life. Occurrence in
29
siblings suggests autosomal recessive inheri-
tance.
Radiographies reveal patchy chondral calci-
fications, usually most marked in the patellas
(Fig. 1.45).
CT may show the abnormal cortical pattern
with large areas of dense, smooth cortex sug-
gesting pachygyria or polymicrogyria. The
white matter may show an edematous density
(Fig. 1.44).
References
1. Boltshauser E, Spiess H, Isler W (1978) Computed
tomography in neurodegenerative disorders in child-
hood. Neuroradiology 16:41-43
2. Chan CC, Egbert PR, Herrick MK et al. (1980)
Oculocerebral malformations: a reappraisal of
Walker's lissencephaly. Arch Neurol 37: 104
3. Dieker H, Edwards RH, Zu Rhein G et al. (1969)
The lissencephaly syndrome. Birth Defects 5: 53-64
4. Dobyns WB, Stratton RF, Parke JT et al. (1983)
Miller-Dieker syndrome: Lissencephaly and mono-
somy 17-p. J Pediatr 102: 552-558
5. Dulac 0, Plouin P, Perulli L et al. (1983) Aspects
electroencephalographiques de l'agyrie-pachygyrie
classique. Rev EEG Neurophysiol 13: 232-239
6. Egger J, Kendall BE, Erdohazi E et al. (1983) In-
volvement of the central nervous system in congeni-
tal muscular dystrophy. Dev Med Child Neurol
25:33-42
7. Evrard P, Caviness VS, Prats-Vinas J et al. (1978)
The mechanism of arrest of neuronal migration in
the Zellweger malformation: an hypothesis based
upon cytoarchitectonic analysis. Acta Neuropathol
41:109-117
8. Friede RL (1975) Developmental pathology. Spr,
New York Wien, pp 297-313
9. Garcia CA, Dunn D, Trevor R (1978) The lissence-
phaly (agyria) syndrome in siblings. Arch Neurol
35: 608-611
10. Goldfischer S, Moore CL, Johnson AB et al. (1973)
Peroxisomal and mitochondrial defects in the cere-
bro-hepato-renal syndrome. Science 182: 62-64
11. Hanaway J, Lee SJ, Netsky MG (1968) Pachygyria:
relation of findings to modern embryologic con-
cepts. Neurology 18:771-780
12. Hart MN, Malamud N, Ellis WG (1972) The
Dandy-Walker syndrome. Neurology 22:771-780
13. Jervis GA (1955) Progressive muscular dystrophy
with extensive demyelination of the brain. J Neu-
ropathol Exp NeuroI14:376--386
14. Jones KL, Gilbert EF, Kaveggia EG et al. (1980)
The Miller-Dieker syndrome. Pediatrics 66: 277-281
30
15. Josephy H (1944) Congenital agyria and defect of
corpus callosum. J Neuropath Exp Neurol 3: 63-68
16. Kamoshita S, Konishi Y, Segawa M et al. (1976)
Congenital muscular dystrophy as a disease of the
central nervous system. Arch Neurol 33: 513-516
17. McMenamin JB, Becker LE, Murphy EG (1982)
Fukuyama-type congenital muscular dystrophy. J
Pediatr 101: 580--582
18. Miller JQ (1963) Lissencephaly in two siblings.
Neurology 13:841-850
19. Pagon RA, Clarren SK, Milam DF et al. (1983) Au-
tosomal recessive eye and brain anomalies: War burg
syndrome. J Pediatr 102: 542-546
20. Passarge E, McAdams AJ (1967) Cerebro-hepato-
renal syndrome. J Pediatr 71: 691-702
21. Ohno K (1979) Lissencephaly on computed tomog-
raphy. J Comput Assist Tomogr 3: 92-95
22. Riccardi VM, Marcus ES (1978) Congenital hydro-
cephalus and cerebellar agenesis. Clin Genet
13:443-447
23. Santavuoti P, Leisti J, Kruus S (1977) Muscle, eye
and brain disease: a new syndrome. Neuropiidiatrie
[Suppl] 8: 553
Fig. 1.37 a-e. An 8-month-old girl with psychomotor re-
tardation, microcephaly with shallow temporal fossae
and a narrow forehead, axial hypotonia, and frequent
seizures since the age of 1 month; EEG is characteristic
of agyria; karyotype is normal. CT: the cortical sulci
are shallow and few in number; the cortex is thickened
Cerebral and Cranial Malformations
24. Van Allen M, Clarren SK (1983) A spectrum of
gyral anomalies in Miller-Dieker (lissencephaly) syn-
drome. J Pediatr 102: 559-564
25. Volpe JJ, Adams RD (1972) Cerebro-hepato-renal
syndrome of Zellweger: An inherited disoreder of
neuronal migration. Acta Neuropath (Berlin)
20:175-198
26. Walker AE (1942) Lissencephaly. Arch Neurol Psy-
chiatr 48: 13-29
27. Whitley CB, Thompson TR, Mastri AR (1983) War-
burg syndrome: lethal neurodysplasia with autoso-
mal recessive inheritance. J Pediatr 102: 547-551
28. Yakovlev PL (1959) Pathoarchitectonic studies
of cerebral malformations. III. Arhinencephalies
(Holotelencephalies). J Neuropath Exp Neurol
18:22-55
29. Yoshioka M, Okuno M, Ito Met al. (1981) Congen-
ital muscular dystrophy (Fukuyama type), repeated
CT-studies in 19 cildren. Comput Tomogr 5:81-88
30. Zimmerman RA, Bilaniuk L, Grossman RJ (1983)
Computed tomography in migratory disorders of
human brain development. Neuroradiology
25:257-263
and dense; the sylvian fissures are large, open, and per-
pendicular to the vault; the edematous appearance of
the white matter contrasts with the dense cortex; there
is moderate ventricular enlargement with characteristic
deformation, and hypoplasia of the frontal and temporal
lobes is best seen on frontal views (d, e)
Malformations of the Cerebral Cortex 31

Fig. 1.38a-c. A 7-year-old girl with mental retardation. mation typical of agyria-pachygyria; the sylvian fissures
Walking acquired at age 4 years, first words at age 6; are large and perpendicular to the vault; densification
frequent seizures. EEG is characteristic of agyria-pachy- and thickening of the cortex are less marked than in
gyria; karyotype is normal. CT shows ventricular defor- Fig. 1.37

Fig. 1.39 a, b. A 1-week-old girl with craniofacial malfor-

mation, marked axial hypotonia, syndactyly, and sei-
zures since the 4th day of life; karyotype: deletion of
chromosome 17. CT shows moderate ventricular en-
largement, absence of cortical sulci, and large, perpen-
dicular sylvian fissures

Fig. l.40a-d. A 2-month-old boy with marked hypotro-

phy and microcephaly, retrognathism suggestive of
Pierre Robin syndrome, narrow forehead, axial hypo-
tonia, absence of mental development, and frequent sei-
zures associated with apnea. EEG is typical of agyria;
karyotype shows deletion of chromosome 17; death oc-
curred at the age of 4 months. CT: agyria with hypopla-
sia of the frontal and temporal lobes and calcification
at the junction of the frontal septum and the corpus
callosum; the different layers of the abnormal cortex
are visible in the sylvian regions
32 Cerebral and Cranial Malformations

Fig. 1.41 a, b. A 9-month-old boy with facial dysmor-

phism, severe epilepsy, absence of psychomotor develop-
ment, and marked pyramidal signs. CT: the cortex of
the right sylvian region shows an abnormally high den-
sity and is clearly thickened, compressing the right later-
al ventricle; small porencephalic cyst in the right tempo-
ral region; the external wall of the dilated left lateral
ventricle is irregular, suggesting periventricular heteroto-
pias

Fig. 1.42a-d. A 13-month-old boy with severe encepha-

lopathy and tetraparesis though no seizures. CT:
marked hypoplasia of the cerebellum and the brainstem;
the frontal cortex is smooth, and its sulci are shallow
and abnormally large in contrast to the parieto-occipital
cortex, which appears displaced posteriorly with abnor-
mally profound, transversal sulci; marked enlargement
of the lateral ventricles

Fig. 1.43a-c. A 3-year-old

girl with partial motor sei-
zures since the age of
1 week, right-sided hemiple-
gia, and psychomotor retar-
dation. CT: the cortex of
the left sylvian region shows
clear thickenning and in-
crease in density, suggesting
focal cortical dysplasia
Congenital Obstruction of the Aqueduct of Sylvius
Fig. l.44a-d. A 2-week-old boy with evolutive hydro-
cephalus, bilateral corneal opacities, and lack of psycho-
motor development. CT : hypoplasia of the cerebellar
vermis (a-b) ; smooth appearance of the frontotemporal
cortex (c) ; marked dilatation of the posterior half of
the lateral ventricles ; intracerebral cysts of CSF density
(c, d)
1.5 Congenital Obstruction
of the Aqueduct of Sylvius
About 15% of cases of hydrocephalus are sec-
ondary to stenosis of the aqueduct of Sylvius
(11). The stenosis may be acquired by intracra-
nial hemorrhage (see Sect. 5.1.2.2) or infection
(see Sect. 4.1). It may also be congenital and
either idiopathic or due to sex-linked hereditary
transmission (1). The congenital forms of steno-
sis may be linked to other cerebral malforma-
33
Fig. 1.45a-d. A 3-month-old boy with craniofacial dys-
morphism including high forehead and slight hypertelor-
ism, generalized hypotonia, diffuse pyramidal signs, and
hepatic and renal enlargement. Radiographies reveal
patchy calcifications in the patellas (d). CT : moderate
enlargement of the lateral ventricles, edematous appear-
ance of the white matter, the cortical circumvolutions
have an irregular pattern, particularly in the frontoparie-
tal region
tions, such as the Arnold-Chiari and Dandy-
Walker malformations, malformation of the
corpus callosum, or neurofibromatosis (see
Sect. 2.1).
Congenital sex-linked aqueductal stenosis
(1) is rare, accounting for about 2% of cases
of congenital hydrocephalus (11). The severity
of the resulting hydrocephalus varies, but most
often leads to stillbirth or death within a few
weeks or months of life. Adduction of the
thumb may be an associated feature (2) in 17%
of the cases (11). Mental retardation with pyra-
midal signs but without hydrocephalus may be
34
another expression of the trait in some families.
In these cases, stenosis of the aqueduct has been
documented as the basic lesion (11), and the
ependymal lining of the aqueduct is intact with
no surrounding gliosis.
In sporadic congenital stenosis, the aqueduct
may not be discernible up on gross inspection
of the midbrain (3). Microscopic examination
discloses multiple ependymal channels embed-
ded in loose glial tissue. Atresia may involve
the larger part or only a short segment of the
aqueduct. "Forking" (10) is consistent with a
normal embryologic appearance (3). Stenosis
due to a small ependymal septum in the lower
part of the aqueduct is infrequent. The etiology
of atresia of the aqueduct remains unknown (7);
most cases are sporadic. Mumps virus may pro-
duce experimental stenosis (6), but its role in
human pathology remains hypothetical.
Ventricular dilatation, confined to the third
and lateral ventricles but sometimes including
the proximal aqueduct always precedes an in-
crease in head circumference. Severe ventricular
dilatation may induce infundibular and hypo-
thalamic compression, and atrophy, ependymal
destruction and periependymal gliosis, stretch-
ing - especially over the frontal horns - of the
white matter, and possibly diverticulation of the
white matter. Rupture of the posterior walls of
the third ventricle leading to spontaneous ven-
triculocisternostomy (8) is rare.
The clinical features of congenital stenosis
of the aqueduct vary according to the age at
onset. Fetal ventricular dilatation may be de-
tected by systematic echography. Infantile hyd-
rocephalus is manifested by increased head cir-
cumference, widened sutures, sunset sign, pyra-
midal signs, axial hypotonia, poor feeding, and
vomiting. Children usually present macro crania
and unsteadiness, and clumsiness resulting from
spastic and cerebellar signs predominating in
the lower limbs. Parinaud's syndrome with im-
pairment of conjugate upward gaze, pupils that
are are active to light, and convergence nystag-
mus may be observed. In adolescents, endo-
crinal signs frequently predominate, including
slow growth, obesity, sexual infantilism, prima-
ry or secondary amenorrhea, or, more rarely,
sexual precocity (5,9). Arrested hydrocephalus
Cerebral and Cranial Malformations
is often accompanied by a particular clinical
pattern, the so-called cocktail-party syndrome,
that includes sociability, good memory, and
emotional lability (4). Decompensation may ap-
pear throughout life, manifested by headache,
increasing mental dullness, and unsteadiness.
Plain skull films in childhood and adoles-
cence show signs of chronic increased intracra-
nial pressure, with diffuse convolutional mark-
ing, shortening and erosion of the dorsum sel-
lae, occasionally pronounced enlargement of the
sella turcica, and a small posterior fossa
(Fig. 1.46).
On CT scans, the dilatation of the third and
the lateral ventricles is generally marked, con-
trasting with a fourth ventricle of small or nor-
mal size (Figs. 1.46, 1.48). The lateral ventricles
may have irregular contours suggesting lesions
of the adjacent white matter (Fig. 1.49). Rup-
ture of the septum is observed with particular
frequency in cases with early decompensation
(Figs. 1.48, 1.49). The lack of a mass lesion in
the pineal region together with the absence of
a clinical history of meningitis and hemorrhage
suggests a congenital origin of the stenosis.
Combined encephalo- and ventriculography
are useful in confirming the diagnosis of malfor-
mative stenosis and eliminating the possibility
of a small space-occupying lesion in the region
of the pi~eal gland and midbrain. They also
serve to determine whether the floor of the third
ventricle bulges behind the dorsum sellae, thus
rendering possible an eventual ventriculocister-
nostomy.
Treatment largely depends on the patient's
age. In infancy, when the sutures are still open,
shunting of the ventricles seems to give the best
results. In childhood and adulthood, ventriculo-
cisternostomy appears to be the best treatment
because it avoids the complications inherent in
a ventricular shunt operation, such as excessive
drainage with the accompanying risk of sub-
dural hematoma (Fig. 1.46) and infections due
to foreign material. After ventriculocisternos-
tomy - even when the clinical condition of the
patient has improved - ventricular dilatation de-
creases only slowly and partially, but the cister-
nal spaces and sulci become apparent.
Congenital Obstruction of the Aqueduct of Sylvius 35

References induced hydrocephalus: development of aqueductal

1. Bickers DS, Adams RD (1949) Hereditary stenosis
of the aqueduct of Sylvius as a cause of congenital
hydrocephalus. Brain 72: 246-262
2. Edwards JH, Norman RM, Roberts JM (1961) Sex-
linked hydrocephalus: report of a family with 15 af-
fected members. Arch Dis Child 36:481-485
3. Friede RL (1975) Developmental Neuropathology.
Springer, Wien New York, pp 216-229
4. Hagberg B, Sjogren I (1966) The chronic brain syn-
drome in infantile hydrocephalus. Am J Dis Child
112:189-196
5. Jedynak CP, Opriou A, Delalande 0 et al. (1980)
Nonadenomatous intrasellar lesions. In: Derome
PJ, Jedynak CP (eds) Pituitary adenomas. Asclepios,
France, pp 155-169
6. Johnson RT, Johnson KP, Edmonds GJ (1967) Virus
stenosis in hamsters after mumps infection. Science
157:1066
7. Milhorat TH (1972) Hydrocephalus and the cerebro-
spinal fluid. Williams and Wilkins, Baltimore
8. Miller CF, White RJ, Roski RA (1979) Spontaneous
ventriculo-cisternostomy. Surg Neurol 11 : 63-65
9. Peillon F, Boyet F, Fohanno D et al. (1975) Ame-
norrhee d'origine hypothalamique reveJant une hy-
drocephalie par stenose latente de l'aqueduc de Syl-
vius. Ann Med Int 126:601-607
10. Russell DS (1949) Observations on the pathology
of hydrocephalus. Medical Research Council, Spe-
cial Report Series No 265, HMSO, London
11. Salam MZ (1977) Stenosis of the aqueduct of Syl-
vius. In: Vinken PJ, Bruyn GW (eds) Handbook
of clinical neurology, vol 31. North Holland, Am-
sterdam, pp 609-622

Fig. 1.46a-e. A 17-year-old patient with a long history

of progressive walking problems and visual loss, slight
mental retardation, tremor of the limbs, and headache.
Neurologic examination revealed bilateral pyramidal
syndrome, paralysis of the upward gaze, and spasticity
of the lower limbs. Plain skull films show numerous con-
volutional markings, sellar enlargement with erosion of
the dorsum sellae, and small posterior fossa. CT con-
firms suspected aqueductal stenosis with marked dilata-
tion of the third and lateral ventricles (c, d); the third
ventricle bulges into the sella turcica, which is clearly
enlarged (a, b). A ventricular shunt operation was fol-
lowed by an immediate and severe impairment in the
clinical condition of the patient. CT (e) shows a clear
reduction in ventricular size, and extensive, bilateral,
partially hemorrhagic subdural hematomas
36 Cerebral and Cranial Malformations

Fig. 1.47 a, b. A 7-year-old patient presenting evolutive

macrocrania, frequent headaches, and seizures. The CT
demonstrates aqueductal stenosis with marked dilata-
tion of the third and lateral ventricles, ependymal de-
struction in the region of the left trigone (b) and leakage
of CSF into the cerebral tissue, causing a porencephalic
cyst in the left temporoparietal region (a, b)

Fig. 1.48a--c. A 7-day-old

girl born with macro crania
and revealing axial hypo-
tonia and sunset sign. CT:
hydrocephalus secondary to
aqueductal stenosis; the
fourth ventricle is nearly un-
detectable (a); the septum is
ruptured (b, c)

Fig. 1.49a--c. A 2-year-old boy with slight macrocrania lateral ventricle extends to the interhemispheric fissure,
and congenital hemiparesis. CT: aqueductal stenosis indicating damage of the internal portion of the left cere-
with dilatation of the third and lateral ventricles and bral hemisphere
a small fourth ventricle (a), the clearly asymmetric left
Cleland-Chiari Malformation 37

1.6 Cleland-Chiari Malformation neuroradiologic images have been extensively

described in the recent literature (13-17).

The Cleland-Chiari malformation is nearly al- Cranial and Dural Malformations

ways associated with myelomeningocele and
Granial and dural malformations are not lim-
thus represents the most frequent craniocerebral
ited to the posterior fossa only. Liickenschiidel
malformation complex. This malformation was
or lacunar skull is seen in at least 85% of pa-
first described by Cleland in 1883 (3) but was
tients with Chiari II malformation (18). The la-
attributed to Chiari (2), who in 1891 isolated
cunae appear on the vault as clusters of atten-
three types of posterior fossa malformations:
uated areas that may affect both the inner and
Type I corresponds to an isolated downward
outer calvaria (Fig. 1.50). They disappear after
displacement of the inferior cerebellum into the
the age of 6 months. Petrous scalloping or ero-
vertebral canal. It is relatively rare in childhood,
sion of the posteromedial petrous pyramides
where it is generally associated with complex
(Fig. 1.53 b) is seen in about 70% of cases of
malformations of the clivus or of the first and
Chiari II malformation (9). The internal audito-
second cervical vertebrae.
ry canal may be shortened. An enlarged fora-
Type II is the most frequent and is usually
men magnum (Figs.1.53e, 1.54b) (9) is ob-
referred to as the Chiari II malformation. It al-
served in about 70% of cases of Chiari II mal-
ways is associated with myelomeningocele.
formation. The partial absence, hypoplasia, or
Type III, which is rare, is associated with
fenestration of the falx are observed in all pa-
occipital cephalocele and will thus be treated
tients with Chiari II malformations studied at
in Sect. 1.9 (p. 51).
necropsy (18). Falx hypoplasia may be easily
Only the Chiari II malformation will be dis-
observed by CT after a shunt operation
cussed in this section. Clinical symptoms due
(Figs. 1.51d, 1.53d) and may sometimes be ac-
to the Chiari II malformation are generally
companied by interdigitation of the gyri along
lacking in the neonatal period, when the atten-
the upper interhemispheric scissura (Fig. 1.52).
tion of the clinician is focused on the myelomen-
Tentorial hypoplasia is observed in nearly all
ingocele and its repair. Generally, it is the onset
patients with Chiari II malformation (18). On
of evolutive hydrocephalus at the age of several
CT scans, tentorial hypoplasia is revealed as a
weeks or months that suggests the possibility
wide space between the tentorial leaves on all
of associated intracranial lesions. Focal neu-
sections through the tentorium (14), with her-
rologic signs, such as cranial nerve palsies or
niation of the upper cerebellum surrounded by
pseudobulbar, pyramidal, and cerebellar signs
the cisternal spaces (Figs. 1.51c, 1.53f-h).
usually appear in late childhood or adolescence
and seem more frequent in patients who have
Cerebral Malformations
had complications due to ventricular shunting.
The embryogenesis of the malformation The various cerebral malformations are com-
complex is not understood. Various theories plex, and there is no indication that any of the
have been suggested: traction on the hindbrain malformations predominates or gives rise to any
by fixation of the spinal cord at the myelomen- of the others. The order of description of the
ingocele, tissue pressure gradients between the different lesions is therefore purely arbitrary.
intracranial contents and those within the spinal The midbrain is abnormal in all patients
theca (1), expulsion of the hindbrain from the with Chiari II malformation (6). The quadrige-
posterior fossa by the expanding hydrocephalus minal plate is beaked and elongated caudally
(8), and different growth rates for the bony and (Figs. 1.51 b-d, 1.53c, g, h) and may in some
the nervous structures of the posterior fossa cases form a groove in the superior cerebellar
(13). vermis. The cerebellum always shows severe hy-
The neuropathologic presentation of this poplasia. The superior portion of the cerebellum
malformation complex and its corresponding bulges upward through the wide incisura of the
38
hypoplastic tentorium; this is best demonstrated
in post-shunting CT scans (Figs.1.S1, 1.S3).
The cerebellum may grow forward, surrounding
the brainstem (Figs. 1.S1 b, 1.S3e-g). The inferi-
or portion of the cerebellum (vermis and hemi-
spheres) is distorted and displaced downwards
through the foramen magnum into the upper
cervical canal in 90% of cases (19). The protru-
sion of the inferior cerebellum behind the brain-
stem may be correctly identified on CT scans
because of the disappearance of the surrounding
cisternal and thecal spaces of CSF density
(Fig. 1.S3 a), but more details are obtained after
intrathecal injection of metrizamide (Figs.
1.S3e-h, 1.S4).
The medulla and even the pons may be dis-
placed downward in the spinal canal (4, 10).
The medulla may descend purely vertically
(30% of cases) or form a buckle behind the up-
per cervical cord (70% of cases) (S). Medullary
buckling may be seen on myelography, but re-
mains undetectable with CT. The spinal cord
is also displaced caudally, so that the cervical
nerve roots have an ascending trajectory. The
fourth ventricle is elongated craniocaudally and
narrowed transversely to such a degree that it
frequently remains undetectable with CT
(Figs. 1.S0a, 1.S1 a, b, 1.S3f). The compression
cone of the inferior cerebellum nearly always
induces atrophic and necrotic lesions in the cere-
bellum and, more rarely, in the medulla. The
central canal of the spinal cord is abnormal in
the majority of the cases (12). The incidence
of hydromyelia is directly related to the success
of shunt therapy for associated hydrocephalus.
The hydrocephalus seen in most cases may be
due to stenosis of the aqueduct of Sylvius (about
SO% of the cases) (7, 11), to cervical herniation
obstructing communication between the ven-
tricular and cisternal systems, or to secondary
changes from ascending neonatal meningitis.
CT reveals that dilatation usually predominates
in the posterior part of the lateral ventricles (16).
The intermediate mass is unusually large in
most Chiari II patients, and this may explain
why the third ventricle is generally small in com-
parison with the marked dilatation of the lateral
ventricles. The surface of the cerebral hemi-
spheres exhibits a pattern of redundant gyra-
Cerebral and Cranial Malformations
tion, but histologic examination shows normal
structure (7), and reports in the literature of as-
sociated micropolygyria seem unconvincing (7).
The possibility of a Chiari II malformation
and related hydrocephalus must be considered
with all neonates treated for myelomeningocele.
Ventricular dilatation always precedes clinically
manifest hydrocephalus requiring a shunt oper-
ation. A successful shunt operation may prevent
later lesions in the region of the medulla and
spinal cord.
References
1. Cameron AH (1957) The Arnold-Chiari and other
neuro-anatomical malformations associated with
spina bifida. J Pathol BacterioI73:195-211
2. Chiari H (1891) Uber Veranderungen des Klein-
hirns, der Pons und der Medulla oblongata in der
Folge von congenitaler Hydrocephalie des GroB-
hirns. Dtsch Med Wochenschr 27:1172-1175
3. Cleland J (1883) Contributions of the study of spina
bifida, encephalocele and anecephalus. J Anat Phys-
iol 17: 257-292
4. Daniel PM, Strich SJ (1958) Some observations on
the congenital deformity of the central nervous sys-
tem known as Arnold-Chiari malformation. J Neu-
ropathol Exp Neurol 17: 255-266
5. Emery JL, MacKenzie N (1973) Medullo-cervical
dislocation deformity (Chiari II deformity) related
to neurospinal dysraphism (meningomyelocele).
Brain 96:155-162
6. Emery JL (1974) Deformity of the aqueduct of Syl-
vius in children with hydrocephalus and myelomen-
ingocele. Dev Med Child Neurol [Suppl] 17:40-48
7. Friede RL (1975) Developmental neuropathology.
Springer, Wien New York, pp 216-229
8. Gardner WJ (1973) The dysraphic states. Excerpta
Medica, Amsterdam, pp 113-125
9. Kruyff E, Jeffs R (1966) Skull abnormalities asso-
ciated with the Arnold-Chiari malformation. Acta
Radiol 5: 9-24
10. Lendon RG (1968) Neuron population in the spinal
cord of children with spina bifida and hydrocepha-
lus. Dev Med Child Neurol (Supp\) 15:50-54
11. MacFarlane A, Maloney AFJ (1957) The appear-
ance of the aqueduct and its relationship to hydroce-
phalus in the Arnold Chiari malformation. Brain
80:479--491
12. MacKenzie NG, Emery JL (1971) Deformities of
the cervical cord in children with neurospinal dys-
raphism. Dev Med Child Neurol [Suppl] 25: 58-67
13. Naidich TP, MacLone DG, Harwood-Nash DC
(1982) Malformations of the craniocervical junction.
In: Newton TH, Potts DG (eds) Modern neurora-
Cleland-Chiari Malformation 39

diology, vol 1, chap 18. Clavadel Press, San An-
selmo
14. Naidich TP, Pudlowski RM, Naidich JB et al. (1980)
Computed tomographic signs of the Chiari II mal-
formation. Part I: Skull and dural partitions. Radi-
ology 134: 65-71
15. Naidich TP, Pudlowski RM, Naidich JB (1980)
Computed tomographic signs of the Chiari II mal-
formation. Part II: Midbrain and cerebellum. Radi-
ology 134:391-398
16. Naidich TP, Pudlowski RM, Naidich JB (1980)
Computed tomographic signs of the Chiari malfor-
mation. Part III: Ventricles and cisterns. Radiology
134:657-663
17. Naidich TP, Fulling KH (1983) The Chiari malfor-
mation. Part IV: The hindbrain deformity. Neuro-
radiology 25: 179-197
18. Peach B (1965) Arnold Chiari malformation. Ana-
tomic features of 20 cases. Arch Neurol12: 613-621
19. Variend S, Emery JL (1979) The superior surface
lesion of the cerebellum in children with myelomen-
ingocele. Z Kinderchir 28: 328-335

t::.
Fig. 1.50a-c. A 7-day-old boy with lumbar myelomen-
ingocele; head circumference is normal. CT: lacunar
skull, clear dilatation of the lateral ventricles and third
ventricle; the fourth ventricle is undetectable, suggesting
Chiari II malformation

Fig. 1.51 a-d. A 12-year-old boy with a ventriculoperi- t>

toneal shunt since the age of2 months for hydrocephalus
secondary to Chiari II malformation, normal intelli-
gence, paraparesis (lumbar myelomeningocele). CT:
Chiari II malformation including compression of the
fourth ventricle (which is undetectable), hypoplastic cer-
ebellum growing forwards around the brainstem (b),
bulging upwards through the wide incisura of the hypo-
plastic tentorium (c), and hypoplastic falx cerebri with
lacking median part (d)
40
Fig. 1.52a, b. A 6-year-old boy with stabilized hydroce-
phalus secondary to Chiari II malformation. CT: hypo-
plastic, nearly nonexistent falx with interdigitation of
the circumvolutions along the midline
Fig. 1.54a-d. A 12-year-old girl suffering from lumbar
myelomeningocele with stabilized hydrocephalus and
progressively worsening scoliosis. CT after intrathecal
injection of metrizamide: herniation of the inferior cere-
bellum into the upper cervical canal (a, b) and through
the foramen magnum; marked cerebellar hypoplasia (c)
and deformation of the midbrain (d)
Cerebral and Cranial Malformations
Fig. 1.53a-h. A 6-year-old boy with lumbar myelomen-
ingocele and hydrocephalus; ventriculoperitoneal shunt
at the age of 3 months; recent, progressive cranial nerve
palsies. CT demonstrates Chiari II malformation (a-d
without contrast, e-h after intrathecal injection of metri-
zamide): enlarged upper cervical canal (a) and foramen
magnum (e); the markedly hypoplastic cerebellum (e-g)
is displaced downwards behind the medulla oblongata
(a, e) and is growing forward around the brainstem (e-
g); scalloping of the posteromedial section of the petrous
pyramids (b); caudal elongation of the quadrigeminal
plate (c, h); fenestration of the anterior falx (d)
42
lar, which may be seen at the end of the 1st
year of life. Convolutional marking and split
sutures occur in cases with elevated intracranial
pressure.
CT reveals that the cystic fourth ventricle
may occupy nearly all of the posterior fossa;
its thin membranes cannot in general be differ-
entiated from the occipital vault, which consti-
tutes its posterior limits. The anterior limits are
formed by the median brain stem, and the floor
of the fourth ventricle corresponds to a more
or less marked ridge between the cerebellar
hemispheres, which are displaced laterally and
anteriorly (Figs. 1.55~ 1.57). Although Dandy-
Walker syndrome is generally symmetrical,
asymmetrical lateral displacement of a cerebel-
lar hemisphere, of a possible ridge that might
correspond to the floor of the fourth ventricle
suggests the possibility of a huge arachnoid cyst
of the posterior fossa (see Fig. 1.100 in Sect.
1.10.2). The cystic fourth ventricle may descend
into the upper cervical canal. The upper limits
of the malformation extend to the hypoplastic
anterior cerebellar vermis, to a thin membrane
which may protrude through the foramen ovale,
compressing the posterior third ventricle
(Figs. 1.55, 1.56), and to the central elevated
part of the tentorium. Marked dilatation of the
third and lateral ventricles is frequent but not
constant; it was noted in 15 of the 20 cases of
our serIes.
Angiography is no longer indicated in diag-
nosing this malformation; ventriculography
may be valuable for the detection of an asso-
ciated aqueductal stenosis that may also appear
as a consequence of a shunt operation.
Dandy-Walker syndrome with evolutive
hydrocephalus requires neurosurgery. Neither
marsupialization nor excision of the membranes
of the cystic fourth ventricle has shown definite
improvement (16), so these procedures are no
longer performed. A ventriculoperitoneal shunt
operation frequently suffices. A double shunt
in the ventricles and the cyst may be indicated
when aqueductal stenosis occurs (15).
Cerebral and Cranial Malformations
References
1. d'Agostino A, Kernohan JW, Brown JR (1963) The
Dandy-Walker syndrome. J Neuropathol Exp Neu-
roI22:450-470
2. Benda CE (1954) The Dandy-Walker syndrome or
the so-called atresia of the foramen of Magendie.
J Neuropathol Exp Neurol13: 14-29
3. Brown JR (1977) The Dandy-Walker syndrome. In:
Vinken PJ, Bruyn GW (eds) Handbook of clinical
neurology, vol 30. North Holland, Amsterdam,
pp 623-646
4. Dandy WE (1921) The diagnosis and treatment of
hydrocephalus due to occlusion of the foramen of
Magendie and Luschka. Surg Gynecol Obstet
32:112-124
5. Diebler C, Dulac 0 (1983) Cephaloceles. Clinical
and neuroradiological appearance. Associated cere-
bral malformations. Neuroradiology 25: 199-216
6. Evrard P, Belpaire MC, Boog G et al. (1982) Diag-
nostic prenatal des affections du systeme nerveux
de l'enfant. Communication. Societe fran~aise de
neurologie infantile, Lausanne
7. Fischer EG (1973) Dandy-Walker syndrome: an
evaluation of surgical treatment. J Neurosurg
39:615-621
8. Gardner WJ, Smiths JL, Padget OH (1972) The rela-
tionship of Arnold Chiari and Dandy-Walker mal-
formations. J Neurosurg 36:481-486
9. Gardner WJ (1977) Hydrodynamic factors in
Dandy-Walker and Arnold Chiari malformations.
Child's Brain 3: 200--212
10. Haller JS, Wolpert SM, Rahe EF et al. (1971) Cystic
lesions of the posterior fossa in infants: a compari-
son of the clinical, radiological and pathological
findings in Dandy-Walker syndrome and extra-axial
cysts. Neurology 21 :494-506
11. Hart MN, Malamud N, Ellis WG (1972) The
Dandy-Walker syndrome: a clinico-pathological
study based on 28 cases. Neurology 22:771-780
12. Jenkyn LR, Roberts DW, Merlis AL et al. (1981)
Dandy-Walker malformation in identical twins.
Neurology 31: 337-341
13. McLaurin RL (1977) Cranium bifidum and cranial
cephaloceles. In: Vinken PJ, Bruyn GW (eds) Hand-
book of clinical neurology, vol 30. North Holland,
Amsterdam, pp 209-217
14. Olson GS, Halpe DCE, Kaplan AM et al. (1981)
Dandy-Walker malformation and associated cardiac
anomalies. Child's Brain 8:173-180
15. Raimondi AJ, Samuelson G, Yarzagaray L et al.
(1969) Atresia of the foramina of Luschka and Ma-
gendie: the Dandy-Walker cyst. J Neurosurg
31:202-216
16. Sawaya R, McLaurin RL (1981) Dandy-Walker
syndrome: clinical analysis of 23 cases. J Neurosurg
55:89-98
17. Tal Y, Freigang B, Dunn HG et al. (1980) Dandy-
Walker syndrome: analysis of 21 cases. Dev Med
Child Neurol 22: 189-201
Dandy-Walker Syndrome 43

Fig. 1.55a-f. A l-day-old boy seen for cranial dys-
morphism and small occipital cephalocele. Head circum-
ference is normal. CT a-c: Dandy-Walker syndrome
with cystic dilatation of the fourth ventricle (a), com-
pressing and extending above the third ventricle (b, c),
elevating the tentorium (c). The cerebellar vermis is hy-
poplastic. Dilatation of the lateral ventricles is moderate.
Onset of evolutive hydrocephalus requiring shunt opera-
tion at 1 month. CT at 3 months (d-f) shows increase
in volume of the posterior fossa cyst (d) compressing
the (e, f) third ventricle and dilatation of the lateral ven-
tricles. A second operation with shunting of the cyst
and ventricles resulted in stabilization of the head cir-
cumference

Fig. 1.56a-d. A 3-month-old girl presenting evolutive

hydrocephalus with onset at the age of 2 months, axial
hypotonia, sunset sign, and bilateral pyramidal syn-
drome. CT: Dandy-Walker syndrome with cystic dilata-
tion of the fourth ventricle, absent cerebellar vermis,
and compression of the posterior part of the third ventri-
cle
44
<J Fig. 1.58a, b. A 6-year-old boy with mental retardation
1.8 Cerebellar Hypoplasia
The term" cerebellar hypoplasia" includes mul-
tiple malformations and lesions of the cerebel-
lum occurring at various stages of intrauterine
life and resulting in a diminution of cerebellar
volume. The clinical symptoms are as various
as the lesions observed. A precise classification
of cerebellar hypoplasia is usually possible only
by means of neuropathologic examination,
which, based on the appearance of the lesions
and the structures involved, allows approximate
dating of the causal disturbance.
The cerebellum develops from paired centers
in the rhombic lip that proliferate and fuse on
the midline anterior to the choroid plexus in
the membranous roof of the fourth ventricle.
A first subdivision separates the archicerebel-
lum, i.e., the flocculi of the hemispheres and
the nodule of the vermis, from the posterior cer-
ebellum. A second subdivision between the cul-
men and the declive of the vermis, or fissura
Cerebral and Cranial Malformations
l::.
Fig. 1.57 a--c. An 8-month-old girl presenting evolutive
hydrocephalus with onset at the age of 4 months. Neu-
rologic examination and mental development are nor-
mal. CT: Dandy-Walker syndrome with slight asym-
metry of the cerebellar hemispheres (a, b), marked dilata-
tion of the lateral ventricles, and thinning of the occipital
vault
and slight macrocrania. CT: Dandy-Walker syndrome
with missing cerebellar vermis; the lateral ventricles are
only moderately enlarged (b)
prima, separates the anterior and posterior
lobes of the cerebellum; the latter exhibit the
greatest evolution in man (10, 16). Generally,
the development of the vermis antedates that
of the cerebellar hemispheres.
A joint analysis of the clinical and neurora-
diologic signs, comparing them with the anato-
mopathologic descriptions of previous observa-
tions, may aid in better understanding the dif-
ferent forms of cerebellar hypoplasia.
A) Complete agenesis of the cerebellum (21)
and vermis (11) - except for the Dandy-Walker
malformation - is rare.
B) In neocerebellar hypoplasia, the cerebel-
lum is reduced to two cerebellar hemispheres
of extremely small size and to a rudimentary
vermis sometimes detectable only on serial sec-
tions. Histologic examination discloses the ab-
sence of part or all of the neo- and paleocerebel-
lum and persistence of the archicerebellum,
which may show an abnormal structure (2, 13,
15). Related malformations are frequent and in-
Cerebellar Hypoplasia
clude hypoplasia of the pons, abnormalities of
the inferior olives and basal ganglia (10) (one
personal case), and agenesis of the corpus callo-
sum (10) (four personal cases), indicating a dis-
turbance early in intrauterine life.
C) In vermian hypoplasia, the anterior part
of the vermis is generally preserved, and the pos-
terior part is absent, sometimes replaced by a
thin membrane. The cerebellar hemispheres are
usually slightly hypoplastic.
D) Unilateral hypoplasia of a cerebellar
hemisphere observed in six cases of our series
suggests less a malformation than a sequela due
to vascular obstruction. In fact, in three cases,
unilateral hypoplasia was associated with a por-
encephalic cyst in the parieto-occipital region.
The clinical symptoms encountered in cere-
bellar hypoplasia are numerous and may be
broadly classified into four clinical pictures,
which are not sharply delimited, but rather,
overlap considerably:
1) In the dysequilibrium syndrome (12, 18),
patients exhibit predominantly static ataxia and
slow postural development with walking not ac-
quired until the late teens, lack of equilibrium
reaction, and mental retardation. This syn-
drome has been considered as autosomal reces-
sive, but since its precise characteristics remain
unknown, genetic counselling is difficult in the
absence of familial antecedents.
2) Joubert's syndrome (1, 3-5, 7-9, 14, 17)
appears as an autosomal recessive disease with
neonatal episodes of tachypnea alternating with
apnea, abnormal eye movements, and marked
hypotonia. An abnormal retinogram has also
been reported. Death generally occurs in the
first months of life. Surviving infants are sever-
ely retarded.
3) Congenital hypotonia may be the preva-
lent symptom of cerebellar dysfunction (20);
mental retardation, truncal titubation, and ab-
normal eye movements may appear only secon-
darily, thus suggesting the central origin of the
hypotonia.
4) A very specific clinical picture, which to
our knowledge has not been reported in the lit-
erature, was observed in four personal cases.
It consisted of frequent and marked tremors of
large amplitude, jerky movements of the limbs,
45
hypertonia with abrupt backward movements
of the head, abnormal eye movements, frequent
respiratory problems, and microcephaly.
Sometimes, cerebellar hypoplasia may be re-
vealed by congenital encephalopathy with no
distinguishing signs. Bilateral neocerebellar hy-
poplasia seldom remains asymptomatic (22).
Unilateral cerebellar hypoplasia is frequently
asymptomatic (18), probably as a result of com-
pensatory mechanisms.
The proper CT diagnosis of cerebellar hy-
poplasia requires multiple, thin, overlapping CT
sections of the posterior fossa because of the
sometimes extreme reduction in cerebellar vol-
ume. On the basis of CT evidence, we have dis-
tinguished three groups of cerebellar hypopla-
sia:
1) The first group includes 13 cases of severe
cerebellar hypoplasia. CT scans showed the pos-
terior fossa to be very small. The hypoplastic
brain stem was clearly visible in contrast to the
abnormally large cisterns of the posterior fossa.
The hypoplastic cerebellum was always located
in the upper part of the posterior fossa. The
vermis was intact, but appeared small in the
absence of the normally adjacent structures. It
was prolonged laterally by two rudimentary
masses corresponding to the flocculi and located
behind the petrous bone (Figs. 1.59-1.62). The
fourth ventricle was small and seemed to com-
municate openly with a markedly enlarged
cisterna magna. Severe hemispheric hypoplasia
of the cerebellum was linked to ventricular en-
largement in six cases (Figs. 1.60, 1.62), to agen-
esis of the corpus callosum in four cases (see
Sect. 1.1) and to pachygyria in one case
(Fig. 1.62).
2) In the second group, hypoplasia was most
marked in the vermis, where it always predo-
minated in the posterior part. Sometimes, the
vermis was reduced to a thin membrane
(Figs. 1.63, 1.65) or was missing altogether
(Fig. 1.66). The fourth ventricle and the cisterna
magna were clearly enlarged in their anteropos-
terior diameter and seemed to communicate
freely. (Figs. 1.63-1.66). More or less marked
hypoplasia of the cerebellar hemispheres existed
in all cases. Enlargement of the lateral ventricles
was observed in half the cases and was pro-
46
nounced in two cases (Fig. 1.66), especially in
the only case of Walker anomaly (see Sect. 1.1).
3) Asymmetrical cerebellar hypoplasia was
observed in six cases. In three cases, it was re-
lated to porencephalic cysts in the parieto-occi-
pital region, suggesting vascular obstruction in
the territory of the basilar artery (Figs. 1.68,
1.70).
The cerebellar lesions observed by CT in the
first group largely coincides with anatomo-
pathologic descriptions of severe hemispheric
hypoplasia of the cerebellum found in the litera-
ture (2, 10), and this was confirmed in two per-
sonal cases in which anatomopathologic exami-
nations were performed. Clinical symptoms
generally included severe tremor, abnormal eye
movements, respiratory difficulties, and ence-
phalopathy.
The predominant vermian hypoplasia noted
with CT in the second group was usually asso-
ciated with Joubert's and dysequilibrium syn-
dromes and sometimes with apparently isolated
congenital hypotonia.
Generally, isolated hemispheric hypoplasia
had no clinical expression. When parieto-occipi-
tal porencephalic cysts were involved, the pa-
tients were usually examined because of sei-
zures. In one case, clearly asymmetrical cerebel-
lar hypoplasia was related to severe dysplasia
of the cerebral hemispheres (Fig. 1.69), showing
numerous heterotopias at anatomopathologic
examination. This as yet un designated malfor-
mation was familial, having been observed in
a sibling of the propositus.
The proper correlation of clinical signs and
radiologic and anatomopathologic findings
seems hampered at present by the small number
and apparent heterogeneity of the reported ob-
servations of cerebellar hypoplasia. In Joubert's
syndrome, familial transmission has been dem-
onstrated in fewer than eight families (1, 8, 14,
3); anatomopathologic examination was per-
formed in only one case (3); and neuroradio-
logic evidence may be normal or show vermian
atrophy or an occipital cephalocele. Moreover,
the lesions observed may differ among affected
siblings (1).
The diagnosis of congenital cerebellar syn-
dromes is thus essentially clinical; neuroradio-
Cerebral and Cranial Malformations
logic evidence may confirm but not eliminate
this diagnosis. Indeed, numerous patients with
congenital cerebellar syndrome and mental re-
tardation have a normal neuroradiologic status,
making precise classification difficult.
References
1. Aicardi J, Castello-Branco ME, Roy C (1983) Le
syndrome de Joubert. Arch Franc Pediatr
40:625-629
2. Biemond A (1955) Hypoplasia ponto-neocerebellar-
is, with malformation of the dentate nucleus. Folia
Psychiat Neurol Neurochir Neerland 58:2-7
3. Boltshauser E, Isler W (1977) Joubert syndrome:
episodic hyperpnea, abnormal eye movements, re-
tardation and ataxia associated with dysplasia of
the cerebellar vermis. Neuropaediatrie 8: 57-66
4. Calogero JA (1977) Vermian agenesis and unseg-
mented midbrain tectum. J Neurosurg 47:605-608
5. Curatolo P, Mercuri S, Cotroneo E (1980) Joubert
syndrome: case confirmed by computerized tomog-
raphy. Dev Med Child NeuroI22:362-366
6. DeHaene A (1955) Agenesie partielle du vermis du
cervelet de caractere familial. Acta Neurol Psychiatr
Belg 55: 622-628
7. Dralle D, Schmidt-Sommerfeld E (1979) Zusam-
menhiinge zwischen Atemregulation und paradoxem
Schlaf bei einem Patienten mit Joubert Syndrom.
Klin Piidiatr 191: 83-90
8. Egger J, Bellman MH, Ross EM et al. (1982) Jou-
bert-Boltshauser syndrome with polydactyly in sib-
lings. J Neurol Neurosurg Psychiatr 45:737-739
9. Friede RL, Boltshauser E (1978) Uncommon syn-
dromes of cerebellar vermis aplasia. I: Joubert syn-
drome. Dev Med Child NeuroI20:758-763
10. Friede RL (1975) Developmental neuropathology.
Springer, New York Wien, pp 319-326
11. Gross H, Hoff H (1955) Sur les dysraphies cranio-
encephaliques. In: Heuyer G, Feld M, Gruner J
(eds) Malformations congenitales du cerveau. Mas-
son, Paris, pp 287-296
12. Hagberg G, Sanner G, Steen M (1972) The dysequi-
librium syndrome in cerebral palsy. Acta Paediatr
Scand [Sup pI 226]
13. Jervis GA (1950) Early familial cerebellar degenera-
tion: Report of 3 cases in one family. J Nerv Ment
Dis 111 : 398--407
14. Joubert M, Eisenring 11, Robb JP et al. (1969) Fa-
milial agenesis of the cerebellar vermis. A syndrome
of episodic hyperpnea, abnormal eye movements,
ataxia and retardation. Neurology 19:813-825
15. Lamy M, Grasset A, Jammet ML et al. (1963)
L'ataxie cerebelleuse hereditaire de l'enfance. Arch
F rany Pedia tr 20: 5-15
16. Larsell 0 (1947) The development of the cerebellum
Cerebellar Hypoplasia
in man in relation to its comparative anatomy. J
Comp NeuroI87:85-129
17. Lindhout D, Barth PG, Valk J et al. (1980) Joubert
syndrome associated with bilateral chorioretinal col-
oboma. Eur J Pediatr 134: 173-176
18. Macchi G, Bentivoglio M (1977) Agenesis or hypo-
plasia of cerebellar structures. In: Vinken PJ, Bruyn
GW (eds) Handbook of clinical neurology, vol 30.
North Holland, Amsterdam, pp 367-393
19. Sanner G (1979) Pathogenetic and preventive as-
Fig. 1.59a-d. A 15-month-old girl with microcephaly,
severe mental retardation, marked tremor increasing
with voluntary movements, abnormal eye movements,
and respiratory difficulties. Death occurred at the age
of 18 months. CT: marked hypoplasia of the cerebellar
hemispheres and the brain stem (a--c); the vermis seems
intact (b--d)
47
pects of non-progressive ataxic syndromes. Dev
Med Child Neurol21 :663-671
20. Sarnat HB, Alcala H (1980) Human cerebellar hy-
poplasia. A syndrome of diverse causes. Arch Neu-
ro137:300-305
21. Sternberg C (1912) Ober einen vollstandigen Defect
des Kleinhirns. Verh Dtsch Path Gesellschaft
15:353-359
22. Tennstedt A (1965) Kleinhirnaplasie beim Erwach-
senen. Zentralbl Allg Pathol Anat 187:301-304
Fig. l.60a--e. A 6-month-old boy with hypertonia, severe
tremor, abnormal eye movements, and frequent episodes
of apnea. CT shows severe hypoplasia of the cerebellar
hemispheres (a, b) and hypoplasia of the brainstem (e).
The vermis is intact, as shown on a median reformatted
view (e)
48
Fig. 1.61 a-d. A 5-year-old boy with ataxic diplegia and
slight mental retardation. CT (a, b horizontal views; c,
d frontal views): hypoplasia of the cerebellar hemi-
spheres, vermis, and brainstem. The remaining struc-
tures are best observed on a frontal view passing through
the anterior part of the posterior fossa
Fig. 1.62a-c. A 13-month-old boy with severe congenital
encephalopathy and craniofacial dysmorphism. CT
Cerebral and Cranial Malformations
Fig. 1.63a-d. A 2-week-old boy with facial dysmorphism
frequent episodes of apnea and bradycardia, marked hy-
potonia, and abnormal eye movements. Two siblings
with the same symptoms died shortly after birth. CT
shows vermian hypoplasia. The fourth ventricle and the
cisterna magna are enlarged, especially in their antero-
posterior diameter (a-c). Lateral ventricles have normal
dimensions (d)
shows marked hemispheric and vermian cerebellar hy-
poplasia
Cerebellar Hypoplasia 49

Fig. 1.64a--c. A 2-month-

old boy with congenital hy-
potonia. CT: moderate ver-
mian hypoplasia with large
fourth ventricle (a, b), con-
trasting with lateral ventri-
cles of normal size (c)

Fig. 1.65a--c. A 3-year-old

boy with congenital ataxia
and slight mental retarda-
tion. His sister has severe
encephalopathy with in-
tractable seizures. CT shows
vermian hypoplasia with en-
larged fourth ventricle and
cisterna magna (a--c) and
moderate hypoplasia of the
cerebellar hemispheres. The
cerebrum is normal

Fig. 1.66a-d. A 2-year-old boy presenting renal and car-
diac malformations, unilateral coloboma, mental retar-
dation, and marked hypotonia. CT: hypoplasia of the
cerebellar vermis (a--c) and marked dilatation of the lat-
eral ven tricles (d)
Fig. 1.67 a-d. A 2-year-old girl with no neurologic dys-
function examined for a palpebral angioma (b, c). CT
shows vermian hypoplasia and moderate hypoplasia of
the left cerebellar hemisphere
50
Fig. 1.68a--d. A 3-day-old girl with respiratory dysfunc-
tion, marked hypotonia, and left facial palsy. CT: cere-
bellar hypoplasia predominantly affecting the left cere-
bellar hemisphere (b), right internal temporal porence-
phalic cyst
Fig. 1.70a--c. A 10-year-old girl with paresthesia of the
left upper limb and partial seizures. CT shows moderate
vermian and hemispheric cerebellar hypoplasia with
Cerebral and Cranial Malformations
Fig. 1.69a--d. A 4-day-old boy with macrocrania and se-
vere neurologic impairment. A brother with the same
symptoms died shortly after birth. Anatomopathologic
examination showed an unclassifiable cerebellar and ce-
rebral dysplasia with multiple heterotypias. CT: cerebel-
lar hypoplasia with cerebral malformation resembling
prosencephaly, but with the falx intact
large fourth ventricle (a), cystic cisterna magna, and
right temporoparietal porencephalic cyst (b--c)
Cephaloceles
Fig. 1.71a-d. A 5-year-old boy with moderate macro-
crania and congenital ataxia. His 3-year-old brother
shares the same symtoms. CT: hemispheric and vermian
cerebellar "atrophy" (a~); the cerebrum appears nor-
mal (d)
1.9 Cephaloceles
Cephaloceles are congenital malformations con-
sisting of a defect in the cranium and the dura
matter with extracranial herniation of intracra-
nial structures. The term cranial meningocele
is reserved for the forms in which the herniated
sac contains only leptomeninges filled with
CSF. The term encephalocele designates the
forms in which the herniated sac also contains
brain tissue. A simple skull defect without pro-
lapse of brain or meninges is referred to as cra-
nium bifidum occultum. Isolated cranium bifi-
dum occultum is uncommon and is not consid-
ered clinically significant (4, 65). In rare cases,
the orifice of the herniated sac may become obli-
terated secondarily, such that the structures
contained within it lose their continuity with
the analogous intracranial structures. Such a
mechanism may account for "nasal gliomas"
and for the remains of neuronal tissue occasion-
ally found within the scalp (11, 27, 36).
51
Cephaloceles occur about once in 4000-5000
live births. This frequency is roughly the same
in regions with low or high incidence of spina
bifida and other malformations of the central
nervous system (24, 35, 49). Cephaloceles are
less common anomalies than spina bifidas. In
series of congenital malformations of the central
nervous system, cephaloceles occur 6 (24) to 16
(55) times less frequently than spina bifida. In
our personal series, cephaloceles are about three
times less frequent than agenesis of the corpus
callosum, a common related malformation.
The etiology of cephaloceles remains ob-
scure. In most instances, the lesion is sporadic.
A genetic influence is sometimes apparent, as
in the occurrence of cephaloceles (a) in families
with spina bifida and other malformations of
the nervous system (71) or (b) in the HARD ± E
syndrome associating hydrocephalus, agyria,
retinal dysplasia and (in about 50% of the cases)
an encephalocele (52, 73). Cephaloceles may be
produced experimentally by several teratogens,
e.g., X-irradiation, trypan blue, and excessive
52
doses of vitamin A (19, 42, 43, 71). Geographic
differences in the distribution of encephaloceles
indicate additional racial and perhaps environ-
mental factors in the formation of cephaloceles.
Indeed, the cephalocele is most often occipital
in location in Europe and America (4, 43) and
more frequently frontal in location in Russia
and Southeast Asia (4, 62-64).
Several different mechanisms may be in-
voked to explain the different locations and na-
tures of the various cephaloceles:
a) Defective tissular induction with malfor-
mation early in embryogenesis may explain the
concurrence of anterior cephaloceles with cere-
bral and craniofacial malformations such as
prosencephaly, agenesis of the corpus callosum,
anomalies of the visual and olfactory structures,
and midline facial clefts. The coincidence of
these lesions suggests perturbations at an early
stage of gestational life (28-35 days' gestation,
horizon developmental XIII-XVI) (37). At this
time, the notochord and the neural tube togeth-
er with the surrounding mesoblast form the cra-
nial base and facial structures (37, 45, 59). The
interactions among the optic vesicles, the otic
vesicles, and the surrounding mesoblast result
in formation of the visual and auditory appara-
tus (37, 45,59). Defective tissular induction may
also explain the association of posterior cepha-
loceles with cerebral malformations such as
agenesis of the corpus callosum, dorsal cysts,
callosal lipoma, and porencephaly (43). The co-
incidence of these lesions suggests that the ce-
phalocele may interfere with the induction and
formation of the membranous cranial roof
(38-45 days' gestation, developmental stage ap-
proximately XVI) (37, 59).
b) Isolated, focal cranial defects with cepha-
locele may arise at later stages of embryogene-
sis. (1) Progressive ossification of the chondro-
cranium with coalescence of the multiple ossifi-
cation centers begins about the 35th day of ges-
tation (37) and continues until after birth. Fail-
ure of these ossification centers to unite proper-
ly together with persistent dehiscence between
two enchondral ossification centers may explain
certain basal cephaloceles. (2) Elevated pressure
may lead to a progressive thinning of the neu-
ropil, which evolves into a focal defect in the
Cerebral and Cranial Malformations
cranial vault with cephalocele, as has been ob-
served on successive echo tomographies during
pregnancy (14). Such a mechanism may explain
the cephaloceles associated with certain cystic
intracranial malformations, such as Dandy-
Walker cysts.
In the last 6 years, we have performed neu-
roradiologic examinations on 31 patients with
cephaloceles. The location of these cephaloceles
is given in Table 1.1.
Table 1.1. Location of cephaloceles in a series of 31 pa-
tients
Posterior location: 21 cases
Occipital infratentorial 8
Occipital supratentorial 7
Occipital infra- and supratentorial 3
Parietal 3
Anterior location: 10 cases
Ethmoidal 4
Sphenoidal 3
Frontal 2
Frontoparietal
All patients with cephaloceles of the vault
were examined in the neonatal period to deter-
mine the structures contained in the cephalocele
and to detect associated hydrocephalus and ce-
rebral malformations. The patients with basal
cephaloceles were examined between 2 weeks
and 53 years of age for widely varying indica-
tions, including visual and endocrine distur-
bances and craniofacial malformations. We
shall discuss in sequence the different locations
and types of cephaloceles and present for each
type a brief review of the embryologic develop-
ment of the skull bones involved, the clinical
signs of the cephalocele, and the neuroradio-
logic findings by which the cephalocele may be
diagnosed.
1.9.1 Sphenoidal Cephaloceles
The sphenoid bone develops at the anterior ex-
tremity of the notochord. It has four major
components: the basisphenoid arising in the
prechordal mesoderm, the presphenoid situated
Cephaloceles
anterior and inferior to the basisphenoid, the
orbitosphenoid which will give rise to the
planum sphenoid ale and the lesser wings and
the alisphenoid which will give rise to the
greater wings of sphenoid (15, 37). Chondrifica-
tion of the body of the sphenoid begins at about
40 days of gestational life. The craniopharyn-
geal canal which passes through the basisphe-
noid closes at 50 days of gestional life (stage
XX) (37). Ossification centers first appear in the
sphenoid body at about 70-80 days of gesta-
tional age and are multiple for each component.
The basisphenoid, for example, generally forms
from two pairs of lateral and two median ossifi-
cation centers. Ossification then continues up
to adulthood. The synchondrosis between the
components of the sphenoid bone, therefore,
can still be observed on skull radiographs of
infants and children.
Sphenoidal cephaloceles are relatively rare.
To our knowledge, only 19 detailed observa-
tions have been published (2, 3, 9, 12, 21, 25,
3~ 38, 44, 47, 53, 54, 57, 60, 66, 67, 70, 72).
We have observed three further cases in our per-
sonal series. Although the sphenoidal cephalo-
cele is not easily detected on physical examina-
tion as are most of the other forms of cephalo-
celes, its clinical presentation (58) is rather typi-
cal. Obstruction of the nasopharynx by the ce-
phalocele leads to breathing difficulties and al-
teration of the voice. Facial malformations are
a constant finding. Hypertelorism has been re-
ported in all sufficiently detailed publications
and was present in all three patients in our se-
ries. In 12 cases, the facial malformation was
more complex and included labial fissure (seven
cases), palatine fissure (five cases), and median
nasal fissure (three cases).
Close inspection of the nasopharynx often
reveals the cephalocele as a palpable, pulsatile
mass covered by normal mucosa. Crying, Val-
salva's maneuver, and jugular compression may
increase its volume. Spontaneous fistulization
and secondary meningitis are rare. Concurrent
optic malformations, reported in ten cases, in-
clude unilateral coloboma or hypoplasia of the
eye and the orbit, bilateral optic nerve hypopla-
sia (66), hypoplasia of the chiasm, and retinal
defects (67). Ophthalmologic disturbances may
53
date from birth in cases with associated optic
malformation. In others, secondary loss of visu-
al acuity and optic atrophy nearly always devel-
op later. Endocrine dysfunction has been noted
in eight cases and essentially consists of deficits
in somatotrophin, gonadotropins, and antidiur-
etic hormone (three cases). Mental dificiency
has been noted only in cases with associated
cerebral malformations, the most frequent of
which is agenesis of the corpus callosum (ten
cases). Patients with hypertelorism, ophthalmo-
logic, and endocrine disturbance, and/or naso-
pharyngeal mass require neuroradiologic evalu-
ation to reveal or rule out basal encephaloceles.
On plain skull radiographs, the diagnosis of
sphenoidal cephalocele is suggested by the ab-
sence of the center of the sellar floor on postero-
anterior projections and by the presence of a
pharyngeal mass attached to the anterior face
of the sphenoid body on lateral projections. The
sphenoidal malformation per se is best analyzed
on frontal and sagittal tomograms which reveal
(a) the osseous defect in the central part of the
sellar floor and (b) the large canal through the
sphenoid body by which the intracranial con-
tents communicate with the pharyngeal mass
(Figs. 1.72, 1.73). The dorsum sellae is always
of normal appearance. The defect of the sellar
floor is typically prolonged rostrally between
the anterior clinoids and the lesser sphenoidal
wings as a median depression. In six cases, the
bony defect extended further rostrally into the
ethmoid region, giving rise to sphenoethmoidal
cephaloce1es (9, 21, 47, 54, 60).
Sphenoidal cephaloceles always contain the
inferior part of the third ventricle and the hypo-
physis. On CT scans, the herniated third ventri-
cle appears as a round, lucent (CSF density)
mass with walls of cerebral density. The mass
lies within the suprasellar cistern and extends
downward through the sella turcica into the
pharyngeal cephalocele (Figs. 1.72, 1.73). The
pharyngeal part of the cephalocele is generally
attached to the posterior border of the nasal
septum.
Arteriography and ventriculography (or
pneumoencephalography) were performed in
two of our patients with progressive visual loss
and optic atrophy to try to visualize the optic
54
pathways more precisely. These examinations
confirmed herniation of the third ventricle into
the cephalocele (Figs. 1.72, 1.73) and showed
a downward deflection of the first segment of
the anterior cerebral arteries, but the exact loca-
tion of the chiasm, the optic nerves, and the
hypophysis could not be depicted. CT scans
may also demonstrate associated lesions, such
as agenesis of the corpus callosum, observed in
10 cases in the literature (2, 3, 44, 47, 54, 57,
60, 66, 67, 70) and one personal case. An epider-
moid cyst of the sellar region was observed in
one case (57).
Neurosurgical reduction of sphenoidal ce-
phaloceles, performed in 12 published cases, has
been associated with high mortality and, to our
knowledge, was not accompanied by a definitive
improvement in the clinical condition of any pa-
tient. It therefore seems that the only valid indi-
cation for surgery remains fistulization of the
cephalocele with rhinorrhea and risk of menin-
gitis.
1.9.2 Frontoetbmoidal Cepbaloceles
The membranous roof of the cranial cavity is
present at about 38-40 days' gestation life (stage
XVI). The first two ossification centers in the
frontal bone appear at 50-60 days' gestation.
They are located in the region of the future su-
perciliary arches (26, 37). Intramembranous os-
sification starting in these two centers spreads
dorsally over the pars frontalis and into the pars
orbitalis in the direction of the ethmoid and the
sphenoid bones. The two ossification centers
meet at the midline, where the metopic suture
may persist until 2 years after birth.
Frontoethmoidal cephaloceles are relatively
rare in Europe and America but more frequent
in Southeast Asia (62-64). In most cases, fron-
to ethmoidal (synonym: sincipital) cephaloceles
may be detected by simple inspection of the pa-
tient. On the basis of the location of the osseous
defect, one may distinguish four groups of fron-
tal cephaloceles: nasofrontal, nasoethmoidal,
naso-orbital, and interfrontal. The relative fre-
quency of these different groups is difficult to
establish, because only isolated observations of
Cerebral and Cranial Malformations
this rare malformation have been published (1,
6, 8, 10, 16, 20, 28, 29, 41, 56, 61, 68). The
larger series of these cephaloceles (63, 64), based
on postmortem studies, do not reflect the true
incidence of the malformation; small frontona-
sal and nasoethmoidal cephaloceles may go un-
detected because they are compatible with nor-
mal life, even if left untreated.
In nasoethmoidal or intranasal cephaloceles,
the herniated sac protrudes through a defect in
the lamina cribrosa of the ethmoid bone into
the nasal fossa. The defect may be unilateral
or bilateral, median or paramedian.
The most frequent clinical complaint is nasal
obstruction. Physical examination reveals an in-
tranasal mass which may be misdiagnosed as
a nasal polyp. Generally, the malformation is
discovered in the neonatal period when nasal
polyps do not occur, but in nearly half the cases
it is detected only after the age of 2 years (6).
Facial and cerebral malformations such as me-
dian facial cleft, hypertelorism, and agenesis of
the corpus callosum (Fig. 1.74) are associated
with nasoethmoidal cephaloceles less frequently
than they are with sphenoidal cephaloceles.
Only one case of such an association occurred
in this series.
Intranasal resection of the cephalocele is
linked with high mortality (68). Resection of
nasal cephaloceles should only be attempted
after neurosurgery seals off the intracranial con-
nection.
In naso/rontal cephaloceles, the skull defect
is round or ovoid and is located in the bregmatic
region between the two deformed orbits. The
intracranial orifice projects above the ethmoid
and the crista galli, which is often bifid. All the
patients in this group present with hypertelor-
ism and a mass at the glabella or the root of
the nose (11, 63, 64). The size of the cephalocele
may vary from a small mass less than 1 em in
diameter to a large sac containing nearly half
of the brain. Small nasofrontal cephaloceles
may contain only meninges. Larger ones con-
tain the anterior part of the olfactory tracts and
the anterior portions of the frontal lobes. Asso-
ciated cerebral malformations including agene-
sis of the corpus callosum have been reported
in the literature (63) and were observed in one
Cephaloceles
of the two patients m our senes (Figs. 1.75,
1.76).
In nasoorbital cephaloceles, the osseous de-
fect is located between the ethmoid and the
frontal process of the maxilla; thus, the cephalo-
cele passes through the lamina cribrosa, the eth-
moid, and the lamina papyracea into the inter-
nal part of the orbits. This subgroup of malfor-
mations seems to be rather rare (48, 63). Clinical
presentation includes hypertelorism and a com-
pressible, often slightly pulsatile mass in the in-
ternal part of the orbit leading to lateral devia-
tion of the eye and exophthalmos. Skull radio-
graphs and tomograms reveal osseous hyperte-
lorism, partial or complete opacity of the eth-
moid and the defect in the medial wall of the
orbit. Continuity of the orbital mass with the
intracranial structures is apparent on CT scan
(Fig. 1.77).
Interfrontal cephaloceles are often located in
the inferior part of the metopic suture but may
occupy the entire length of the suture, extending
to the anterior tips of the frontal lobes or even
the anterior halves of the cerebral hemispheres.
Interfrontal cephaloceles usually seem to be vol-
uminous (63) (two personal observations).
Brain herniation may be asymmetrical, as in two
examples of the literature and in the two obser-
vations of our series. In these cases, the major
part of one cerebral hemisphere is herniated,
leading to a rotation of the intracranial hemi-
sphere (Fig. 1.78). Prognosis is poor both be-
cause of the compression of the herniated cere-
bral tissue by the constriction ring formed by
the frontal defect and because of associated ce-
rebral malformations including "holotelence-
phaly," agyria, and hydrocephalus produced by
elongation of the brain stem (63).
A particular form of frontal cephalocele is
observed in some cases of lipoma of the corpus
callosum (31, 32). In the two published cases
and in our single observation of this rare type
of cephalocele, the osseous defect was located
in the upper part of the metopic suture. The
cephalocele was of moderate size, irreducible,
and covered by normal skin. As in lipoma of
the corpus callosum without cephalocele, neu-
rologic impairment is inconstant but is present
in approximately half the cases, consisting of
55
seizures, mental retardation, or hemiparesis (17,
31, 32, 39, 50, 51, 69). A diagnosis of interfron-
tal cephalocele with associated lipoma is sug-
gested by the location of the cephalocele and
confirmed on skull radiographs or CT scans,
which show an area of decreased density in the
projection of the corpus callosum (Fig. 1.79).
In older patients, the area of decreased density
may be surrounded by linear calcifications. Li-
pomas of the corpus callosum are congenital
masses located in one part of, or along the en-
tirety of, the corpus callosum; extension to
neighboring structures, such as the lateral ven-
tricles or the interhemispheric fissure, is fre-
quent. It has been hypothesized that lipomas
extending into the upper interhemispheric
fissure might interfere with the normal induc-
tion of the membranous cranial roof by the
brain (59).
Posterior orbital cephaloceles have been de-
scribed in the literature in association with pul-
satile exophthalmos. On skull radiographs or
during surgery hypoplasia of the sphenoid wings
and bulging of the temporal fossa into an en-
larged orbit can be observed. Such lesions are
encountered most frequently in patients with the
sphenoidal dysplasia of neurofibromatosis (5, 7,
75). Significantly, most of the published cases
describe small children in whom the cutaneous
signs of neurofibromatosis were either absent
or overlooked.
1.9.3 Occipital Cephaloceles
The occipital bone derives from both chondro-
cranium and membranous bone (37). Mesoder-
mal cells proliferate bilaterally and fuse around
the notochord to form the portion of the skull
base known as the basiocciput or lower clivus.
The bilateral exoccipital bones develop posteri-
orly to the basi occiput from parachordal meso-
derm. They undergo ossification at about 60
days of gestation and delimit the lateral margins
of the foramen magnum. The caudal boundary
of the foramen magnum is formed by the su-
praoccipital bone. The interparietal bone, situ-
ated above the supraoccipital bone, is the only
56
part of the occipital bone to undergo membra-
nous ossification (37).
Cephaloceles occur most frequently in the
occipital region: 196 out of 265 cephaloceles
were occipital in the series of Matson (46), and
a similar frequency has been observed in less
extensive series. The precise location of the occi-
pital defect, however, has rarely been noted in
the larger series in the literature. In the 18 cases
in our personal series, the location was infraten-
torial in eight cases, supratentorial in seven and
combined infra- and supratentorial in three. The
ratio of meningoceles to encephaloceles was 10
to 45 in the series of Lorber (40) and 36 to 38
in the series of Guthkelch (22). The size of the
cephalocele is variable, ranging from a few milli-
meters in diameter to encephaloceles containing
the larger part of the brain (Figs. 1.81, 1.82).
Small cephaloceles are usually covered by nor-
mal scalp; larger ones are covered by a thin,
translucent membrane joined to the scalp. Tran-
sillumination may be helpful in determining the
contents of larger cephaloceles (43). CSF leak-
age is rare.
The size of the osseous defect and its rela-
tionship to the foramen magnum are best shown
on plain skull radiographs. However, a cranial
defect ex tenting into the posterior fossa does
not necessarily signify that the cephalocele origi-
nates in the posterior fossa. In one personal ob-
servation, a cephalocele appeared to be joined
with the foramen magnum but contained only
the posterior part of one occipital lobe
(Fig. 1.82). CT scans give the most valuable in-
formation about posterior cephaloceles. They
demonstrate the nature of the contents of the
cephalocele and, thus, document their origin.
CT also detects associated malformations and
hydrocephalus. More detailed analysis of asso-
ciated malformations of the posterior fossa,
especially of the Chiari III malformation, may
require intrathecal injection of contrast material
(Figs. 1.83, 1.84). Pneumoencephalography no
longer seems indicated. Angiography demon-
strates the vascularization of the herniated cere-
bral tissue and the locations of the longitudinal
and the lateral sinuses (18, 23, 74), information
which may be required before surgery. Com-
puted angiography yielding the same informa-
Cerebral and Cranial Malformations
tion may replace conventional angiography in
the future.
Four of the eight infratentorial cephaloceles
in our series were associated with a Chiari III
malformation. In these cases, the cranial defect
was located in the region of the supraoccipital
bone, either together with the foramen magnum
or at a small distance from it. The cerebellum
and particularly the cerebellar vermis were dis-
placed caudally, though herniation of cerebellar
tissue through the occipital defect remained
minimal. The medulla and pons were oriented
vertically, and the angle of the pontine plicature
was reduced. The fourth ventricle appeared
compressed laterally and stretched caudally
(Figs. 1.83, 1.84). Hydrocephalus was present
in three of the four cases.
Three of the eight infra tentorial cephaloceles
in our series were associated with a Dandy-
Walker malformation. The cephaloceles, large
in two cases and small in one (Fig. 1.85), con-
tained the posterior part of the Dandy-Walker
cyst. Similar associations of infratentorial ce-
phalocele with cystic malformations of the pos-
terior fossa have been previously reported in
two studies (13, 43). In these cases, the cephalo-
cele seems to be secondary to progessive thin-
ning and resorption of the occipital vault, as
has been observed on successive echotomogra-
phies during pregnancy (14).
In the three cases with combined infra- and
supratentorial cephalocele, the herniated tissue
was always supratentorial brain. Tentorial hy-
poplasia or abnormal implantation of the ten-
torium permitted passage of the herniated tissue
into the projection of the posterior fossa. The
brain stem and the cerebellum were compressed
and displaced anteriorly. Hydrocephalus was
frequent (Figs. 1.81, 1.82).
The cranial defect was located supratentori-
ally in seven of 18 occipital cephaloceles in our
series. Brain herniation and hydrocephalus each
occurred in half the cases. In patients with occi-
pital encephalocele, the prognosis for life and
potential function is directly related to the pres-
ence of cerebral tissue in the cephalocele, to the
presence of any hydrocephalus, and to any addi-
tional cerebral malformations (4, 22, 30,40,43)
(Fig. 1.80).
Cephaloceles
1.9.4 Parietal Cephaloceles
The paired parietal bones are of membranous
origin. Each develops from a single ossification
center which appears by the 8th week of gesta-
tion (37, 42, 43). Parietal cephaloceles occur less
frequently than occipital cephaloceles. Parietal
cephaloceles are associated with cerebral mal-
formations such as porencephalies in the parie-
tal region or agenesis of the corpus callosum
with dorsal cysts more frequently than are occi-
pital cephaloceles (42, 43). Some cases of parie-
tal cephaloceles may be secondary to cerebral
defects, with resultant defective induction of the
membranous bone (59).
In parietal meningoceles, the posterior part
of the interhemispheric fissure is always en-
larged and communicates with the herniated
pouch (Figs. 1.86, 1.87). Hydrocephalus is rela-
tively rare in parietal cephaloceles and, when
present, is generally secondary to associated
malformations such as Dandy-Walker cysts (42,
43). As in occipital cephaloceles, prognosis is
directly related to the presence of brain tissue
in the cephalocele and to any associated cerebral
malformations or hydrocephalus.
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60 Cerebral and Cranial Malformations

Fig. l.72a-b

9 h
<J Fig. 1.72 a-h. Sphenoethmoidal cephalocele in a 53-year-
old patient with slight hypertelorism, primary amenor-
rhea, progressive visual loss and optic atrophy. Frontal
tomograms disclose a large median defect in the sphe-
noid body involving the basisphenoid (g) and the pre-
sphenoid orbitosphenoid (h) components. The large ce-
phalocele bulges into the rhinopharynx. CT scans reveal
that the osseous walls of the cephalocele have a triangu-
lar configuration with a posterior base (c). The herniated
anteroinferior part of the third ventricle is seen within
the sella turcica (d) and the suprasellar cisterns (e) as
an oval mass of CSF density surrounded by walls of
brain density. f The upper part of the third ventricle
appears normal. Ventriculography (a, b) confirms the
herniation of the third ventricle into the rhinopharynx
but does not permit a precise localization of hypophysis
and chiasm

Fig. 1.73a-d. Sphenoidal cephalocele in a 5-year-old boy [>

with hypertelorism, hypoplasia of the left eye, mental
retardation, and short stature for age. CT scan shows
agenesis of the corpus callosum with transsphenoidal
cephalocele

Fig. 1.74a-f. Ethmoidal cephalocele in a 18-year-old pa-
tient with slight mental retardation, median facial cleft
(labial and palatine), and marked hypertelorism. Frontal
tomograms show a depression in the median part of
the orbitosphenoid (a); this depression is more marked
in the ethmoid which contains a large median defect
(b). The encephalocele herniates through this defect and
obstructs the upper nasal fossae. CT scans show the
cephalocele (c--e) and associated agenesis of the corpus
callosum (f)
62 Cerebral and Cranial Malformations

Fig.1.76a-d. Nasofrontal cephalocele in a 5-year-old

boy with slight hypertelorism and small mass in the breg-
matic area. Skull radiographs (b) show the osseous de-
fect situated at the junction of the nasal bones and the
frontal bone. Sagittal tomogram (a) shows that the intra-
Fig. 1.75a-d. Nasofrontal cephalocele in a 2-year-old cranial orifice is located above the ethmoid. CT scans
boy with marked mental retardation, hypertelorism, and show the small canal (c) between the nasal mass and
a small sessile mass in the bregmatic area. CT scans: the anterior cranial fossa (d)
the cephalocele may be traced successively from the na-
sal region (a) through the ethmoidal area anterior to
the crista galli (b, c). It communicates with the olfactory
fossa. Intracranial study (d) shows a complex cerebral
malformation with periventricular heterotopias and ab-
sence of the septum pellucidum
 Cephaloceles
Fig. 1.78a-d. Interfrontal cephalocele in a 2-week-old
boy with large frontal cephalocele. CT scans show defor-
mation of the base of the skull (a) and a large osseous
defect extending from the roof of the right orbit to the
anterior fontanelle. Herniation of the larger part of the
right cerebral hemisphere through the osseous defect re-
sults in the rotation of the left intracranial cerebral hemi-
sphere
<1 Fig. 1.77a--e. Nasoorbital cephalocele in a I-month-old
boy with nasal obstruction, respiratory difficulty, hyper-
telorism, and a soft-tissue mass in the inferior part of
the left orbit causing slight exophthalmos and lateral
deviation of the eye. a Skull radiograph shows hyperte-
lorism, absence of the ethmoid bone, and obstruction
of the nasal fossae. b Frontal tomogram. The mass is
located in the left half of the ethmoid. The right half
63
Fig. 1.79a-d. Frontal cephalocele with lipoma of the cor-
pus callosum in a girl presenting a large sessile mass
covered by normal scalp in the area of the anterior fon-
tanelle. Cosmetic surgery was subsequently performed.
Follow-up CT scans at age 3 years show the large lipoma
of the corpus callosum and its extensions into the lateral
ventricles (a, b) and the interhemispheric fissure (c)
is small. There is a defect in the frontal process of the
maxilla and the lamina papyracea with herniation of
the cephalocele into the inferior part of the orbit. CT
scans show that the mass is an encephalocele with zones
of both CSF density and brain density (c--e). It commu-
nicates with the olfactory fossa (a and b reproduced here
by courtesy of the service of the Hopital Trousseau)
64 Cerebral and Cranial Malformations

Fig. 1.80a-d. Occipital cephalocele (supratentorial) in a

10-day-old girl with a small occipital cephalocele and
macrocrania. CT scans show the small meningocele (a).
The posterior tips of the occipital lobes are compressed
in the osseous defect. The lateral ventricles are markedly
enlarged. The presence of small nodules protruding into
the right lateral ventricle (c, d) and the deformation of
the left anterior horn suggest heterotopias and asso-
ciated cerebral malformation
Fig. 1.81 a-d. Occipital encephalocele (infra- and supra-
tentorial) in a 2-day-old boy with a large occipital cepha-
locele. CT scans reveal that the cephalocele contains part
of the cerebellar hemispheres (a, b) and the larger part
of the occipital lobes (c, d) as indicated by the posterior
displacement of the third ventricle (c) and of the lateral
ventricles (d). The brain tissue is located along the walls
of the encephalocele, the center of which is occupied
by a large cyst of CSF density (d)
Cephaloceles 65

Fig. 1.83a-d. Occipital cephalocele (infratentorial) in a

2-day-old boy with macrocrania and a small sessile occi-
pital cephalocele. CT scans show the osseous defect (b, c)
with the small encephalomeningocele. The fourth ventri-
cle is stretched caudally (c), suggesting a Chiari III mal-
Fig. 1.82a-d. Occipital encephalocele (infra- and supra- formation. The lateral ventricles are markedly enlarged
tentorial) in a 2-week-old girl with macrocrania and oc-
cipital cephalocele. CT scans show a marked dilatation
of the lateral ventricles predominantly of the left side
resulting in cranial asymmetry and thinning of the left
parieto-occipital vault (d). The cystic left occipital horn
compresses the contents of the posterior fossa (a, b) and
herniates through the osseous defect near the foramen
magnum (b--d)
66 Cerebral and Cranial Malformations

Fig. 1.84a-g. Occipital cephalocele (infratentorial)

1-month-old girl with large cervico-occipital cephalocele.
CT scan with intrathecal contrast shows the cranial de-
fect in continuity with the foramen magnum. The tip
of one cerebellar tonsil is engaged into the osseous de-
fect. The rest of the cephalocele contains CSF (a, b).
The fourth ventricle is stretched caudally (d, e, g), sug-
gesting a Chiari III malformation. The lateral ventricles
(g) are of normal size

Fig. 1.85 a-c. Occipital cephalocele (infra tentorial) in a [>

2-day-old boy with occipital cephalocele and macro-
crania. CT scan shows marked enlargement of the lateral
ventricles and a large Dandy-Walker cyst (b, c) whose
posterior part is contained in the cephalocele (a)
Malformative Intracranial Cysts 67

Fig. 1.86a-d. Parietal cephalocele in a 5-year-old girl!>

with mental retardation, seizures, left hemiparesis, and
a small parietal cephalocele. CT scans show the small
parietal meningocele (c, d) and signs of cerebral malfor-
mation (a, b): the lateral ventricles have an irregular
appearance, suggesting heterotopias

Fig. 1.87a-c. Parietal cephalocele in a 7-month-old girl

with small a parietal cephalocele and normal neurologic
status. CT scans show ventricular enlargement (a, b),
unusual cystic enlargement of the posterior interhemi-
spheric fissure, and the parietal meningocele implanted
on the left side of the falx and the longitudinal sinus

1.10 Malformative Intracranial Cysts
1.10.1 Arachnoid Cysts
The term arachnoid cyst designates a fluid-con-
taining cyst developing between the cerebral
surface and the cranial base or vault. The cyst
is surrounded by a thin translucid membrane
usually composed of various kinds of tissue:
some cysts are true arachnoid cysts arising in
the arachnoid membrane, but most of the cysts
seem to be subarachnoid cysts lined by the
arachnoid on the external surface and by the
pia and the internal arachnoid velum on the
internal surface (22).
Thus, arachnoid cysts are usually abnor-
mally large, communicating or noncommuni-
eating cisterns. Even the histologic differentia-
tion of arachnoid cysts from cerebral cysts with
a thin glial membrane may be extremely diffi-
cult. Moreover, histologic examination is not
often performed because the indications for di-
rect neurosurgical resection of arachnoid cysts
seem to have become rare. Classification is
68
therefore generally made on clinical and neuror-
adiologic grounds.
The clinical symptoms of arachnoid cysts de-
pend largely on their location and size. Fre-
quently, arachnoid cysts are asymptomatic and
are discovered fortuitously in the course of neu-
roradiologic or anatomopathologic examina-
tion. Symptomatic arachnoid cysts may be re-
vealed in the neonatal period through cranial
deformations or macro crania or later on in
childhood or even adulthood. A secondary in-
crease in volume resulting either from raised os-
motic pressure or from valvelike communica-
tion with the subarachnoid space may explain
the late appearance of symptoms in arachnoid
cysts.
In our series of 68 cases of arachnoid cysts,
the cyst was located in the middle cerebral fossa
in 41 cases. Of these 25 cases were sylvian, 11
were intra- and suprasellar, four were mixed su-
prasellar and sylvian, and one case was retrosel-
lar. Arachnoid cysts were found in the posterior
fossa in 19 cases, including nine retrocerebellar
cysts, four laterocerebellar cysts located in the
cerebellopontine angle, and six incisural cysts
communicating with the supratentorial space.
In eight cases, the cysts were located at the con-
vexity, while in 19 cases, they were on the mid-
line.
Neuroradiologically, it is usually impossible
to distinguish midline cysts from certain forms
of agenesis of the corpus callosum; for this rea-
son, we have treated them in Sect. 1.1, though
on clinical and histologic grounds, it would have
been better to include them here.
Medial Cerebral Fossa Cysts
The middle cerebral fossa is the most frequent
location of arachnoid cysts. They may be lim-
ited to one section of the temporal fossa or to
the sella turcica, or they may cover both areas
and even extend to the convexity.
a) Intra- and suprasellar arachnoid cysts are
relatively rare; only 54 cases were reviewed in
a recent survey article (10). The majority of the
patients are children generally between 2 and
15 years of age, and there seems to be a predilec-
Cerebral and Cranial Malformations
tion for males. The clinical presentation of su-
prasellar cysts is very polymorphous. Hydroce-
phalus is the most common syndrome (about
90%), making itself apparent either through
macrocrania or more acutely as increased intra-
cranial pressure with vomiting, headache, and
papilledema. Impaired visual acuity, disturbed
visual field, and ataxic gait are observed in 30%
of the cases. The" bobble-head doll syndrome"
(3, 11) consisting in to-and-fro nodding of the
head and trunk was observed in nine of the 54
cases of the literature. Precocious isosexual pu-
berty was noted in six cases of the literature
(4,21) and in one case of our series. Hypopitui-
tarism is seen in about 10% of the cases of the
literature; it may be global or partial and essen-
tially corticotropic as in two cases of our series,
one of which was revealed by hyponatremic sei-
zures. One particular progressive compli~ation
was observed in a personal case involving a
9-year-old boy with choreoathetosis of the up-
per limbs and hemiplegia; CT revealed a large
suprasellar cyst and two grossly symmetrical ar-
eas of necrosis in the basal ganglia region, which
were thought to be secondary to vascular com-
pression (Fig. 1.90).
Plain skull films nearly always show clear
enlargement of the sella turcica. The sellar floor
generally remains horizontal and intact. The
dorsum may be short and displaced posteriorly
- the sella thus appearing open and large. Signs
of chronic increased intracranial pressure are a
nearly constant finding.
The CT appearance of suprasellar arachnoid
cysts is characteristic. The contents of the en-
larged, round sella turcica are of CSF density
(Figs. 1.88-1.91), the suprasellar cisterns have
a round, distended appearance instead of their
normal, angular, often pentagonal configura-
tion. The cyst itself corresponds to a perfect cir-
cle traced in the interior of the triangle delin-
eated by the ends of the basilar artery and the
internal carotid arteries (Fig. 1.91 b). Large cysts
compress the third ventricle and may extend to
the corpus callosum, protruding into the lateral
ventricles (Fig. 1.88). Dilatation of the lateral
ventricles arising from the obstruction of the
third ventricle is nearly always present. Kinetic
examinations by ventriculocystography or
Malformative Intracranial Cysts
pneumoencephalography after decompression
of the lateral ventricles produced contradictory
results in four personal cases. In one case, metri-
zamide injected into the cyst did not leak, but
later, pneumoencephalography showed a com-
municating cyst suggesting a valvelike mecha-
nism. As kinetic examinations are relatively ag-
gressive and do not influence therapeutic indica-
tions, we did not continue their use in our later
observations. Treatment of suprasellar arach-
noid cysts may consist of a subfrontal or a
transcallosal-transfrontal approach of the cyst
with resection of its membranes (10), but recur-
rence is relatively frequent. Apparently, the best
results have been obtained with cystoventriculo-
peritoneal shunts (Fig. 1.91).
b) Retrosellar arachnoid cysts seem to be
rare. In one personal case, the cyst developed
behind the mamillary bodies and the dorsum
sellae and anteriorly to the pons. It was revealed
at the age of 17 months by precocious isosexual
puberty and moderate macrocrania. A CT scan
showed the small cyst between the dorsum sellae
and the pons (Fig. 1.92), which thus obstructed
the cisternal pathways and had caused marked
dilatation of the posterior fossa cisterns.
c) Sylvian arachnoid cysts are certainly the
most frequently encountered arachnoid cysts (1,
2,22). In our series of25 cases, we have included
only cysts with a maximal diameter exceeding
3 cm. Sylvian cysts compress and displace poste-
riorly the temporal lobe and have therefore been
thought to result from temporal lobe agenesis
(18), although there is no clinical sign of tempo-
rallobe dysfunction.
Sylvian cysts are frequently asymptomatic,
as revealed by 12 of the 25 cases of our series.
They may be revealed by temporal bossing,
macrocrania, partial complex seizures, and trau-
matic complications. Indeed, bleeding into the
cyst or adjacent subdural hematomas may be
noted after even minor trauma (24) and lead
to increased intracranial pressure. In infants and
children, transillumination may show a unilater-
al trans lucid area in the sylvian region (1).
Plain skull films may show unilateral bulg-
ing and thinning of the temporal vault (Figs.
1.94, 1.97), elevation and thinning of the lesser
sphenoidal wing, and anterior bulging of the
69
larger sphenoidal wing. In small cysts, plain
skull films may remain normal.
CT shows a round mass of CSF density in
the sylvian fissure that may occupy the anterior
section or the whole (Figs. 1.93, 1.94) of the
temporal fossa. Large cysts displace the frontal
lobe anteriorly and medially, opening the syl-
vian fissure and exposing the insula (Figs. 1.93,
1.94). Some large cysts may extent to the con-
vexity and simulate subdural effusion. Com-
pression of the homolateral ventricle and dis-
placement of the midline are most often moder-
ate, but may be marked in some cases
(Fig. 1.93). Bleeding into the cyst leads to a tem-
porary increase in density (Fig. 1.97).
The absence of permanent neurologic im-
pairment, cranial deformations on plain skull
films, and the CT appearance of the cyst are
the diagnostic criteria for identifying sylvian
arachnoid cysts. They generally present no ther-
apeutic indications. Arteriography and kinetic
examinations may therefore be regarded as irrel-
evant.
d) Sylvian arachnoid cysts with suprasellar
extension: In four cases, a predominantly syl-
vian cyst showed a large intra- and suprasellar
extension. In two of these, endocrine distur-
bances were observed: one case of precocious
isosexual puberty and one case of statural
growth amounting to +4 S.D. with a possible
increase in the level of growth hormone. In none
of these was the height of the suprasellar portion
of the cyst sufficient to obstruct the third ventri-
cle (Fig. 1.95).
Arachnoid Cysts of the Posterior Fossa
" Arachnoid" cysts of the posterior fossa have
various developmental origins and thus various
histologic structures (5). They may correspond
to true arachnoid cysts or to glioependymal
cysts. Some cysts containing choroid plexus are
thought to derive from a developmental abnor-
mality of the rhombencephalic roof (16), while,
others are believed to evolve from the Blake
pouch, a diverticulum of the fourth ventricle.
Since neurosurgical excision of posterior fossa
cysts is infrequent, histologic classification of
posterior fossa cysts most often remains hypo-
70
the tical. On the basis of their neuroradiologic
appearance, we have arbitrarily classified the
posterior fossa cysts as retrocerebellar, latero-
cerebellar, and incisural or paracollicular cysts,
though large cysts may be laterocerebellar and
paracollicular or retro- and laterocerebellar.
a) Retrocerebellar cysts are usually revealed
by obstructive hydrocephalus in the 1st year of
life. Later, cerebellar and pyramidal signs, cra-
nial nerve palsies, nystagmus, and increased in-
tracranial pressure are observable (7, 15, 19).
'plain skull films may show symmetrical or
asymmetrical thinning and bulging of the occi-
pital vault.
CT scans show that the cyst may follow the
contours of the cerebellum (Fig. 1.98) or com-
press it. The cyst may descend into the upper
cervical canal (Fig. 1.100) and raise the tentor-
ium (Figs. 1.90, 1.91). It compresses and dis-
places anteriorly the fourth ventricle (Figs. 1.98,
1.99), causing dilatation of the third and the
lateral ventricles.
By definition, we have included in this group
only retrocerebellar cysts occurring in combina-
tion with hydrocephalus, placing in a different
category - the large group involving cystic dila-
tation of the cisterna magna (9) - cases of retro-
cerebellar cysts without hydrocephalus. Cystic
dilatation of the cisterna magna may be consid-
erable, but is to be regarded as a normal variant
without any pathologic significance.
On ventriculo- or pneumoencephalography,
the cyst frequently communicates with the
cisternal spaces, but shunt drainage of the cyst
generally is inefficacious. In our experience, the
best treatment for a posterior fossa cyst is a
ventriculoperitoneal shunt.
b) Laterocerebellar cysts or cysts of the cer-
ebellopontine angle normally result in progres-
sive macro crania variously associated with uni-
lateral deafness, nystagmus, vertigo, facial he-
miparesis, and cerebellar and pyramidal syn-
dromes.
On CT scans the cyst may be limited to the
cerebellopontine angle (Fig. 1.101) or, when
larger, extent to the retrocerebellar (Fig. 1.100)
and quadrigeminal regions.
c) Incisural or quadrigeminal or paracolli-
cular cysts are located anteriorly to the cerebel-
Cerebral and Cranial Malformations
lar vermis, above the quadrigeminal plate, be-
hind the pineal region, and below the splenium
of the corpus callosum. They are generally in-
dented by the tentorial notch, thus forming an
infra- and a supratentorial sac; sometimes, they
are confined to the infra- or supratentorial
space.
Revealing signs are usually the same as for
progressive obstructive hydrocephalus (9,
12-14, 17, 22) and are frequently accompanied
by oculomotor paresis and by pyramidal and
cerebellar syndromes. Onset usually occurs be-
fore the 2nd year of life.
CT reveals typical findings, including a cyst
of CSF density in the quadrigeminal region,
which may extend above the cerebellar vermis
and the third ventricle (Fig. 1.102).
The cyst does not usually communicate with
the cisternal spaces, as shown by ventriculo- or
pneumoencephalography, and compresses the
aqueduct of Sylvius, leading to obstructive hyd-
rocephalus.
Arachnoid Cysts of the Convexity
These are relatively rare and have the same clini-
cal presentation as sylvian cysts. Focal bulging
and thinning of the vault may be seen on plain
skull films. Diagnosis is generally possible with
CT which shows an extracerebral cyst of CSF
density.
1.10.2 Other Malformative Intracranial Cysts
A) Intracerebral epithelial (ependymal)
cysts are thought to arise from displaced seg-
ments of the wall of the neural tube (6). They
form space-occupying lesions with slowly pro-
gressive neurologic signs such as pyramidal syn-
drome and hemiparesis. Generally, they become
apparent only in adulthood. In two personal
observations, the cyst was located in the tha-
lamic region (Fig. 1.104) in one case, causing
isolated increased intracranial pressure, whik in
the other case the cyst developed in the frontal
region (Fig. 1.103), resulting in progressive par-
esis and pyramidal syndrome.
B) Rathke's cleft cysts (20, 23) are thought
to develop from remnants of Rathke's pouch.
Malformative Intracranial Cysts
They are lined by columnar epithelium and con-
tain fluid. The clinical presentation may include
hypopituitarism, ophthalmologic complaints,
rare instances of aseptic meningitis, or increased
intracranial pressure. On CT scans it may ap-
pear as a round suprasellar cyst, but generally,
the density of the cyst differs from that of the
CSF.
C) Colloid cysts are located in the region
of the frontal interventricular septum between
the foramina of Monro. The are rare in child-
hood and generally cause isolated increased in-
tracranial pressure. Their CT appearance is typ-
ical: they have a spontaneously high density and
are perfectly round and clearly delineated, lo-
cated in the frontal septum. They compress the
foramina of Monro, thus leading to marked di-
latation of the lateral ventricles.
References
1. Aicardi J, Bauman F (1975) Supratentorial extracere-
bral cysts in infants and children. J Neurol Neu-
rosurg Psychiatry 36: 57-68
2. Anderson FM, Segall HD, Caton WL (1979) Use
of computerized tomography scanning in supraten-
torial arachnoid cyst. J Neurosurg 50: 333-338
3. Benton JW, Nellhaus G, Huttenlocher PR et al.
(1966) The bobble-head doll syndrome. Report of
a unique truncal tremor associated with third ven-
tricular cyst and hydrocephalus in children. Neurol-
ogy 16: 725-729
4. Faris AA, Bale GF, Cannon B (1971) Arachnoid
cyst of the third ventricle with precocious puberty.
South Med J 64: 1139-1142
5. Friede RL (1975) Developmental neuropathology.
Springer, Wien New York, pp 196-203
6. Friede RL, Yasargil MG (1977) Supratentorial in-
tracerebral epithelial (ependymal) cysts: review, case
reports and fine structure. J Neurol Neurosurg Psy-
chiatry 40: 127-137
7. Giles FH, Rockett FX (1971) Infantile hydrocepha-
Ius: retrocerebellar cyst. J Pediatr 79: 436-443
71
8. Gonsette R, Potvielege R, Andre-Balisaux G (1968)
La mega grande citerne: etude clinique, radiologique
et anatomopathologique. Acta Neurol Psychiatr
Belg 68: 559-570
9. Hamby WB, Gardner WJ (1935) An ependymal cyst
in the quadrigeminal region: report of a case. Arch
Neurol Psychiat (Chic) 33:391-398
10. Hoffmann HJ, Hendryck, EB, Humphreys RP et al.
(1982) Investigation and management of suprasellar
arachnoid cysts. J N eurosurg 57: 597-602
11. Jensen HP, Pendle G, Goerke W (1978) Head bob-
bing in a patient with a cyst of the third ventricle.
Child's Brain 4: 235-241
12. Katagiri A (1960) Arachnoid cyst of the cisterna
ambiens. Neurology 10:783-786
13. Kruyff E (1955) Paracollicular plate cysts. Am J
Roentgenol 95: 899-916
14. Lourie H, Berne AS (1961) Radiological and clinical
features of arachnoid cysts of quadrigeminal cys-
tern. J Neurol Neurosurg Psychiatry 24: 374--378
15. Mori K, Hayashi T, Handa H (1977) Radiological
manifestations of infratentorial retrocerebellar cysts.
Neuroradiology 13:201-207
16. Oliver LC (1958) Primary arachnoid cysts: report
of 2 cases. Br Med J 1: 1147-1149
17. Pribram HF (1963) Subarachnoid cisterns in intra-
cranial hypertension. Acta Radiol (Kbh) 1 :613-619
18. Robinson RG (1964) The temporal lobe agenesis
syndrome. Brain 87: 87-105
19. Ropert JC (1981) Kystes retrocerebelleux et kystes
de l'incisure tentorielle. Arch Fran9 Pediatr 38:
11-17
20. Rout D, Das L, Rao VRK et al. (1983) Symptomat-
ic Rathke's cleft cysts. Surg Neurol19: 42--45
21. Segall HD, Hassan G, Ling SM et al. (1974) Supra-
sellar cysts associated with isosexual precocious pu-
berty. Radiology 111 : 607-616
22. Shaw CM, Alvord EC (1977) Congenital arachnoid
cysts and their differential diagnosis. In: Vinken PJ,
Bruyn GW (eds) Handbook of clinical neurology,
vol 31. North Holland, Amsterdam, pp 75-136
23. Steinberg GK, Koenig GH, Golden JB (1983)
Symptomatic Rathke's cleft cysts. J Neurosurg
56:290-295
24. Varma TP, Sedzimir CG, Miles JB (1981) Post-trau-
matic complications of arachnoid cysts and tempo-
ral agenesis. J Neurol Neurosurg Psychiatry
44:29-34
72 Cerebral and Cranial Malformations

Fig. 1.88a-d. A 15-year-old boy with increased intracra-

nial pressure, optic atrophy, obesity, no pubertal devel-
opment. CT: large intra-(a) and suprasellar (b-d) arach-
noid cyst compressing the third ventricle and bulging
into the dilated lateral ventricles

Fig. 1.89a-c. A 2-year-old

girl with" bobbling-head
doll syndrome, " motor but
no mental retardation, nys-
tagmus, and moderate
macrocrania. CT : large in-
tra- and suprasellar cyst, di-
latation of the lateral ventri-
cles

Fig. 1.90a-c. A 9-year-old

boy with macrocrania, cho-
reoathetosis of the upper
limbs and hemiplegia. CT:
intra- and suprasellar cyst
complicated by roughly
symmetrical areas of necro-
sis in the basal ganglia re-
gion (c)
Malformative Intracranial Cysts 73

Fig. 1.91a-e. A 7-year-old boy with hyponatremic sei-

zures, statural retardation, diminution of visual acuity,
bitemporal amputation of the visual field, and increased
intracranial pressure. CT shows intra- and suprasellar
cyst. The sella turcica (a) is round and enlarged, and
its contents are of CSF density. The suprasellar cisterns
are dilated (b); the membranes of the cyst form a circle
in the distended polygon of Willis. After shunt operation
(d, e), the clinical condition of the patient is clearly im-
proved; the size of the cyst and the lateral ventricles
has diminished

Fig. 1.92 a-d. A i7-month-old girl with precocious
isosexual puberty and moderate macrocrania. CT: retro-
sellar cyst has developed between the dorsum (a), the
mamillary bodies (b), and the pons, obstructing the basal
cisterns and leading to dilatation of the angle cisterns
(a-c) and moderate enlargement of the lateral ventricles
Fig.1.93a-d. A i5-month-old girl with macrocrania
( + 5 S.D.). CT shows clear enlargement of the left tem-
poral fossa with bossing and thinning of the temporal
frontal vault. The temporal lobe is displaced posteriorly
(c) and the frontal lobe medially (b-d)
74 Cerebral and Cranial Malformations

Fig. 1.94a-d. A 15-year-old boy with asymmetrical mac-

rocrania. CT: enlargement of the right temporal fossa
with thinning and bossing of the temporofrontal vault,
anterior bulging of the larger sphenoidal wing (a-c), and
Fig. 1.95a-d. An 8-year-old girl with precocious isosex-
elevation of the lesser sphenoidal wing (c). Osseous de- ual puberty. Plain skull films show enlargement of the
formations observed in slowly progressive space-occupy- sella turcica. CT: arachnoid cyst of the sylvian fissure
ing lesions such as arachnoid cysts
with large intra- and suprasellar component (a, b)

Fig. 1.96a-c. A 9-year-old

boy with moderate macro-
crania. CT shows a left syl-
vian and a right frontal
arachnoid cyst
Malformative Intracranial Cysts 75

Fig. 1.97a--e. A 9-year-old boy with signs of increased
intracranial pressure appearing in the weeks after a mi-
nor head trauma. CT without contrast enhancement
shows a dense mass in the right sylvian region (a, b)
corresponding to hemorrhage into a sylvian arachnoid
cyst; diagnosis was established on plain skull film show-
ing elevation of the lesser sphenoidal wing and asymmet-
rical enlargement of the right temporal fossa (e). CT
3 months later shows a small sylvian cyst of CSF density
(c, d)

Fig. 1.98a-d. A 3-month-old girl with isolated, marked

macrocrania. CT: a large cyst pressed closely along the
posterior face of the cerebellum (a, b) and compresses
and displaces anteriorly the fourth ventricle (c, d), lead-
ing to marked dilatation of the lateral ventricles
76 Cerebral and Cranial Malformations

Fig. 1.99a-d. A 4 month-old girl with macrocrania

( + 5 S.D.).
CT: large retro- and laterocerebellar cyst (a,
b) compressing and deforming the fourth ventricle (c),
marked dilatation of the third and lateral ventricles (d)

Fig. 1.100a--c. An 8-month-

old boy with macrocrania
(+ 7 S.D.) and cerebellar
ataxia. CT: large retro- and
laterocerebellar cyst,
stretching from the foramen
magnum to the elevated ten-
torium and from the clivus
(b) to the occipital vault
(a--c), compressing and dis-
placing to the right side the
cerebellum and the brain
stem

Fig. 1.101 a--c. A 6-year-old

girl who underwent shunt
operation for hydrocepha-
lus of unknown etiology at
the age of 2 months. CT:
arachnoid cyst of the cere-
bellopontine angle
Malformative Intracranial Cysts 77

Fig. 1.102a-f. An 8-month-old boy with isolated mac-

rocrania ( + 5 S.D.). CT: large incisural cyst with an in-
fratentorial portion extending above the cerebellar ver-
mis (a-c) and a supratentorial portion invaginating
above the third ventricle (c, d) and bulging into the later-
al ventricles (e). f frontal view of the infra- and supraten-
torial portions of the cyst

Fig. 1.103a-c. Young woman with progressive left hemi-
paresis and unilateral pyramidal syndrome. CT: polylo-
bulated cyst in the region of the right basal ganglia,
obstructing the foramen of Monro and compressing the
third ventricle, leading to dilatation of the lateral ventri-
cles. Ventriculography showed that the cyst did not com-
municate with the ventricles. Puncture of the cyst
showed a clear fluid with a slightly increased level of
proteins and temporarily improved left hemiparesis. A
large communication between the cyst and the right
frontal horn was established neurosurgically
78
1.11 Hamartoma of the Tuber Cinereum
A hamartoma of the tuber cinereum is a congen-
ital malformation consisting of a tumorlike, ec-
topic mass of neuronal tissue. The histologic
structure of hamartomas most often resembles
that of a normal posterior hypothalamus, but
may also include other neuronal structures (8).
Typically, the hamartoma is a small, pedicu-
lated mass originating from one of the mamil-
lary bodies and extending into the interpedun-
cular cistern. Two clinical syndromes that may
be related (or also occur in isolation) point to
the possibility of hamartomas of the tuber ciner-
eum. The first syndrome, precocious isosexual
puberty of central origin, is the most frequently
observed. The second syndrome is associated
with various neurologic signs: seizures generally
of the partial complex type, intellectual impair-
ment, and behavioral problems.
In all the 25 published observations with an-
atomical verification (4-6, 8-12, 14-17, 19, 21,
23, 29, 30, 33, 35-39), the hamartoma is im-
planted in the area of the tuber cinereum and
the mamillary bodies and extends posteriorly
into the interpeduncular cistern. This corre-
sponds to the area in which the ventral face
of the neuraxis comes close to the anterior tip
of the notochord at about the end of the 1st
gestational month (embryo of 23-30 somites)
(2). At this time, the ventral face of the neuraxis
Cerebral and Cranial Malformations
Fig. 1.104a--c. A 13-year-
old boy with isolated in-
creased intracranial pres-
sure. CT: small cyst in the
left thalamic region. Com-
munication between the cyst
and the third ventricle was
established neurosurgically,
bringing definite improve-
ment of neurologic impair-
ment
situated behind the oral hypophysis undergoes
two transformations: evagination of the infun-
dibulum anterior to the tip of the notochord
and plication behind the tip of the notochord
with formation of the mamillary recess displac-
ing the ventral face of the neuraxis posteriorly.
It could be postulated that hamartomas are
formed during these displacements: cell tracts
interdependent of the notochord become de-
tached from the mamillary region and are
moved posteriorly. Systematic histologic exami-
nations reveal that hamartomatous malforma-
tions of the hypothalamic region are relatively
common (32). The related cerebral malforma-
tions observed in the literature and in our series
correspond to the same embryonic period: cal-
losal defects (30) (one personal case) and optic
malformations (8) (one personal case).
Along with midline dysraphia, hamartoma
of the tuber cinereum may be likened to callosal
defects, prosencephaly, or septal dysplasia. As
with most of these malformations, hamartomas
are sporadic; no familial connections have been
noted in the published observations or in our
personal series. Like midline dysraphia, hamar-
tomas may be accompanied by malformations
of the cerebral hemispheres. The severity of
these malformations may vary from minor
changes in the cellular architecture to complete
hemispheric disorganization. Several cases of re-
lated hemispheric dysplasia have been published
(15, 30); in these cases, central heterotopias are
Hamartoma of the Tuber Cinereum
associated with so-called cortical microgyria. In
one case in our series, a cerebral malformation
is detectable on the CT scan. In another unilat-
eral enlargement of a lateral ventricle may be
an indirect sign of hemispheric dysplasia. Uni-
or bilateral ventricular enlargement was noted
in four cases in the literature (19, 21, 25, 30).
The onset of clinical symptoms occurs be-
fore the age of 6 years in all cases, before the
age of 2 years in most cases, and frequently
before the age of 6 months. The incidence seems
to be the same in girls and boys in both pub-
lished and 18 personal cases.
The most frequent clinical symptom is pre-
cocious isosexual puberty, which hormonal lev-
els prove to be of central origin. Precocious pu-
berty is usually isolated, as noted in 25 pub-
lished cases (1, 3, 4, 6, 7, 11, 13, 14, 17, 18,
20,24,27, 31, 36, 39) and in ten personal cases.
Hamartomas of the tuber cinereum represent
the most frequent cause of precocious puberty
with detectable cerebral lesion, followed in fre-
quency by parasellar arachnoid cysts, dience-
phalic tumoral lesions, and porencephalic cysts.
While precocious puberty is usually isolated,
it may also occur in conjunction with neurologic
symptoms. Less frequently, the neurologic signs
may constitute the only symptoms, as in four
observations reported in the literature (25, 30)
and in four personal cases. Hormonal levels
were normal in these cases.
The neurologic signs always included sei-
zures, behaviorial problems, and intellectual im-
pairment. Other neurologic signs such as mac-
rocrania or hemiparesis could be related to asso-
ciated cerebral malformations.
Seizures have been observed in 24 published
cases (5, 8, 10, 12, 15, 16, 18, 19, 21-23, 25,
26, 30, 31, 33-35, 37, 38) and in eight cases
in our own series. In two, the type of seizure
was so characteristic that the diagnosis of ha-
martoma was proposed before a neuroradio-
logic examination was carried out. In 11 well-
documented cases in the literature and in seven
cases in our series, the seizure resulted in gelastic
epilepsy. The child stopped his activity and
made several bubbling, laughing noises, fol-
lowed by grimaces caused by uni- or bilateral
clonic movements of the buccal, palpebral, and
79
ocular muscles. These clonic movements, which
are of short duration, may not interrupt normal
activity and are rarely followed by general sei-
zures.
The frequency of the seizures is high, up to
20-30 a day. Regardless of the dosage of the
different anticonvulsive drug employed, treat-
ment remains ineffective.
A review of the literature (28) shows gelastic
epilepsy in other lesions (gliomas, meningiomas,
hypophyseal tumors, and basilar aneurysms) ex-
tending to the floor of the third ventricle. Per-
opera tory stimulation of the floor of the third
ventricle was shown to initiate spasmodic laugh-
ter (28). However, the frequency of gelastic epi-
lepsy with other mass lesions of the mamillary
region is much lower than with hamartomas.
Behaviorial problems and intellectual im-
pairment are constant symptoms in children suf-
fering seizures. The progressive worsening of
these symptoms and agressiveness frequently
make it necessary to place these patients in insti-
tutions permanently. Behavioral problems may
be observed in boys with isolated precocious
puberty, but they are generally moderate and
transient.
The diagnosis of hamartoma is most often
based on neuroradiologic examinations. Plain
skull films are usually normal. Shortening of
the dorsum sellae has been noted in published
observations, but is rarely sufficiently pro-
nounced to provide precise diagnostic orienta-
tion.
The appearance of the hamartoma with CT
is characteristic, revealing a mass:
1) Situated posterior to the dorsum sellae,
pituitary stalk, and floor of the third ventricle;
anterior to the basilar artery, the pons, and the
cerebral peduncles; between the two internal
carotid arteries and the internal face of the two
temporal lobes, i.e., in the interpeduncular
cistern (Figs. 1.105-1.108).
2) With well-defined limits in contrast to the
CSF density of the surrounding cisterns; this
criterion may be lacking in voluminous hamar-
tomas (Fig. 1.108).
3) Of the same density as the cerebral tissue
that does not change after contrast enhance-
ment (Figs. 1.105-1.108).
80
4) Unchanging in size, as revealed by suc-
cessive examinations performed at intervals of
at least 1 year (Figs. 1.105, 1.107, 1.108).
The diameter of the hamartoma may vary
from 4 mm to 4 cm. Small hamartomas with
a diameter of less than 1.5 cm are generally as-
sociated with precocious puberty, but this is not
a fast rule. In four cases in the literature (1,
6, 14, 18) and in two personal cases, large ha-
martomas were associated with precocious pu-
berty. Large hamartomas with a diameter ex-
ceeding 1.5 cm are normally associated with
neurologic symptoms, except in two published
cases. A precise physiopathologic explanation
for this apparent relation between the size of
the hamartoma and the clinical symptoms is still
lacking.
Associated malformations of the central ner-
vous system have been described in three pub-
lished cases (15, 30) and observed in three per-
sonal cases. They included unilateral ventricular
enlargement (Fig. 1.108), unilateral micro-
phthalmia, and agenesis of the corpus callosum
with dysplasia of the left cerebral hemisphere
(see Sect. 1.1, Fig. 1.12). It is probable that small
hemispheric malformations may go undetected
in neuroradiologic examinations. Although mi-
nor hamartomatous malformations of the hypo-
thalamic region seem to be relatively frequent
(32), we have never observed hamartomas with
no specific clinical signs.
Neurosurgical access to the hamartoma is
difficult because of its location and no case has
been published in which the mass was complete-
ly or partially removed and the clinical condi-
tion improved as a result.
References
1. Balagura S, Shulman K, Sobel EH (1979) Preco-
cious puberty of cerebral origin. Surg Neurol
11:315-326
2. Bartelmez GW, Dekaban AS (1962) The early devel-
opment of the human brain. Contr Embryol Carne-
gie lnst Washington 621: 13-14
3. Bedwell SF, Lindenberg R (1961) A hypothalamic
hamartoma with dendritic proliferation and other
neuronal changes associated with blastomoid reac-
tion of the astrocytes. J Neuropathol Exp Neurol
20:219-236
Cerebral and Cranial Malformations
4. Bronstein JP, Luhan JA, Mavrelis WB (1942) Sexual
precocity associated with hyperplastic abnormality
of the tuber cinereum. Am J Dis Child 64: 211-220
5. Brower B, Brummelcamp R (1948) Le syndrome de
puberte precoce, adiposite, polydactylie, oligo-
phrenie lors d'une malformation localisee dans I'hy-
pothalamus. Folia Psychiat Neurol Neurochir Neerl
51 : 185
6. Driggs M, Spatz H (1939) Pubertas praecox bei einer
hyperplastischen MiBbildung des Tuber cinereum.
Virchow's Arch [Pathol Anat] 305: 567-592
7. Frank G, Cacciari E, Cristi G et al. (1982) Hamarto-
mas of the tuber cinereum and precocious puberty.
Child Brain 9: 222-231
8. Graber H, Kersting G (1955) Pubertas praecox bei
Hamartie des medio-basalen Hypothalamus mit he-
terotoper Retinaanlage. Dtsch Z Nervenheilkd
173:1-20
9. Gross RE (1940) Neoplasms producing endocrine
disturbances in childhood. Am J Dis Child
59:579-628
10. Hann J (1959) Pubertas praecox bei hyperplastischer
MiBbildung des Hypothalamus (Hamartom). Ner-
venarzt 30:19-27
11. Hochman HJ, Judge DM, Reichlin S (1981) Preco-
cious puberty and hypothalamic hamartoma. Pedi-
atrics 67: 236-244
12. Hooft CK, Dietrick K, Cieters P (1943) Pubertas
praecox bei einem zweijiihrigen Miidchen mit einem
Tumor des Corpus mamillare. Monatsschr Kinder-
heilkd 12: 87
13. Judge DM, Kulin HE, Page R et al. (1977) Hypo-
thalamic hamartoma. N Engl J Med 296: 7-10
14. Kammer KS, Perlman K, Humphreys RP et al.
(1980) Clinical and surgical aspects of hypothalamic
hamartoma associated with precocious puberty in
a 15-month-old boy. Child Brain 6: 150-157
15. Lange-Cosack H (1951) Verschiedene Gruppen der
hypothalamischen Pubertas praecox. 1. Mitteilung.
Dtsch Z Nervenheilkd 166:499-545
16. LeGros WE, Clark J, Beattie G et al. (1938) The
hypothalamus. Morphological, functional, clinical
and surgical aspects. Oliver and Boyd, Edinburgh
London, pp 178-181
17. LeMarquand HS, Russell DS (1934) A case ofpu-
bertas praecox. R Berkshire Hosp Rep 35:31-61
18. Lin Shu-Ren, Bryson MM, Gobien RP et al. (1978)
Radiologic findings of hamartomas of the tuber cin-
ereum and hypothalamus. Radiology 127:697-703
19. List CF, Dowman CE, Bagchi BK et al. (1958) Pos-
terior hypothalamic hamartomas and ganglioglio-
mas causing precocious puberty. Neurology
3:164-174
20. Loop JW (1964) Precocious puberty. N Engl J Med
271 :409-411
21. Marcuse PM, Burger RA, Salmon GN (1953) Ha-
martoma of the hypothalamus. J Pediatr 43:
301-308
Hamartoma of the Tuber Cinereum
22. Matustic MC, Eisenberg HM, Meyer NJ (1981) Ge-
las tic (laughing) seizures and precocious puberty.
Am J Dis Child 135: 837-838
23. Meyer JE (1948) Pubertas praecox bei einer hyper-
plastischen MiBbildung des Hypothalamus. Arch
Psychiatr Nervenkr 179: 378-392
24. Northfield DWC, Russell DS (1967) Pubertas prae-
cox due to hypothalamic hamartoma: report of two
cases surviving surgical removal of the tumor. J
Neurol Neurosurg Psychiatry 30: 166-173
25. Paillas JE, Roger J, Toga M et al. (1969) Hamar-
tome de I'hypothalamus. Rev Neurol 120: 177-194
26. Penfold JL, Manson JL, Caldicott NM (1978)
Laughing seizures and precocious puberty. Aust
Paediatrl 14: 185-190
27. Piccolo F, Conti S, Bozzao Let al. (1982) Medical
therapy of true precocious puberty due to hamar-
toma of tuber cinereum. A report of 2 cases. Child
Brain 9: 232-238
28. Rong Chi Chen, Forster FM (1973) Cursive epilepsy
and gelastic epilepsy. Neurology 23: 1019-1029
29. Seckel HP (1950) Six examples of precocious sexual
development. Am J Dis Child 79: 278-309
30. Schmidt E, Hallervorden J, Spatz H (1958) Die Ent-
stehung der Hamartome am Hypothalamus mit und
ohne Puberta praecox. Dtsch Z Nervenheilkd
177:235-262
Fig. 1.105a-c. Case 12, a boy, now 8 years old. Onset
at the age of 9 months of isolated, precocious isosexual
puberty, otherwise normal development. Pneumoence-
phalogram at 12 months (a) shows a small hamartoma
in the interpeduncular cistern. Follow-up CT at the age
of 8 years (b, c): the size of the mass is unchanged (--,
hamartoma;~, basilar artery; ~,carotid artery
81
31. Schonberg D (1971) Hamartome des Tuber ciner-
eum bei Pubertas praecox: Endokrinologie und
Diagnostik in vivo. Radiologe 11: 319-321
32. Sherwin RP, Grassi JE, Sommers SC (1962) Hamar-
tomatous malformation of the postero-Iateral hypo-
thalamus. Lab Invest 11: 89-97
33. Stotijn CPJ, Nauta WJH (1950) Precocious puberty
and tumor of the hypothalamus. J Nerv Ment Dis
111: 207-224
34. Stutte H (1950) Pubertas praecox bei hyperpla-
stischer Fehlbildung des Tuber cinereum. Dtsch Z
Nervenheilkd 164:159-173
35. Takeuchi J, Handa H, Miki Y et al. (1979) Preco-
cious puberty due to a hypothalamic hamartoma.
Surg Neurol11 :456-460
36. Testard R (1974) Puberte precoce Jiee a un hamar-
tome. Arch Fr Pediatr 31 :303-314
37. Van der Sar A, Moffie D (1960) Precocious puberty
due to a hypothalamic tumor (hamartoma) in a ne-
groid boy. Acta Psychiatr Scand 35: 345-357
38. Vickers N, Tidswell F (1932) A tumor of the hypo-
thalamus. Med J Aust 2: 116-117
39. Wolman L, Balmforth GV (1963) Precocious pu-
berty due to a hypothalamic hamartoma in a patient
surviving to the late middle age. J Neurol Neurosurg
Psychiatry 26: 275-280
Fig. 1.106a-d. Case 7: A 3-year-old boy with signs of
precocious isosexual puberty since the age of 1 year, nor-
mal dental development, aggressive behavior. CT: ha-
martoma 15 mm in diameter (for explanation of arrows,
see Fig. 1.105)

Fig. 1.108a-h. Case 2: A 4-year-old boy with frequent

seizures since the age of 5 days; the seizures bring on
clonic movements of short duration affecting the facial
muscles. There is also mental impairment and unilateral
paresis of the third cranial nerve. CT at 10 days (a-c),
and 4 years (d-h) - a-f are on the same scale - show
a voluminous hamartoma about 35 mm in diameter.
Unilateral ventricular enlargement may suggest obstruc-
tion of the foramen of Monro or hemispheric dysplasia
(for explanation of arrows, see Fig. 1.105)
\l
Fig. 1.107a-f. Case 16: Girl of 3 years suffering seizures
since the age of 6 months with clonic movements of the
facial muscles, sometimes preceded by laughter; onset
of precocious isosexual puberty occurred 1 month after
the first seizures; mental retardation became evident at
3 years. CT: large hamartoma obstructing the interpen-
duncular cistern (for explanation of arrows, see
Fig. 1.105)
Benign External Hydrocephalus 83

1.12 Benign External Hydrocephalus References

1. Kendall B, Holland I (1981) Benign communicating

Benign external hydrocephalus represents one hydrocephalus in children. Neuroradiology 21 : 93-96
of the most frequent causes of macrocrania in 2. Robertson WC, Gomez MR (1978) External hydroce-
childhood (1,2) (about 90 personal cases). Little phalus. Arch Neurol 35: 541-544
is known about its etiology. Most cases are spo-
radic, but rare familial cases have been observed
in our series. The incidence is clearly higher in
boys (80%). The onset of macrocrania generally
occurs at about 3-6 months of age. Macro-
crania generally remains moderate, the head cir-
cumference never exceeding + 5 S.D. The shape
of the skull is often characteristic with a large,
slightly bulging forehead and a flat vertex. The
fontanelle is large, rarely bUlging. Neurologic
impairment is seldom present, but axial hypo-
tonia and sunset sign may be observed. Transil-
lumination is positive in the frontal regions. The
evolution is favorable, with stabilization of the
head circumference at the age of 18-24 months,
sometimes even later.
The CT findings for external hydrocephalus
are characteristic, showing moderate enlarge-
ment of the ventricular system and clear en-
largement of the cisterns and the peripheral sub-
arachnoid spaces, which appear as marked cere-
bral atrophy if there were no concomitant
macro crania (Fig. 1.109). Follow-up CT scans
are indicated only when macro crania is progres-
sive or neurologic signs are also present or ap-
pear subsequently. Systematic examinations re-
veal progressive thinning of the large peripheral
subarachnoid spaces and regression of the ven- Fig. 1.109a-d. A 9-month-old girl with isolated macro-
tricular dilatation. crania (+ 3 S.D.). CT: external benign hydrocephalus
Isotopic cisternography may be normal, with moderate ventricular enlargement and large peri-
though more frequently it shows ventricular pheral subarachnoid spaces (a, b). At 18 months, en-
largement of head circumference amounts to +2 S.D.
contamination and slow resorption at the con- CT shows regression of the enlargement of the peri-
vexity. Indications for isotopic cisternography pheral subarachnoid spaces and persistent moderate
are limited. ventricular dilatation (c, d)
84
1.13 Primary Megalencephaly
The term megalencephaly is used to describe
brain weight or head circumference exceeding
2.5 S.D. of the mean when no tumor, cyst, or
hydrocephalus is present (3). Benign familial
macrocephaly with a dominant mode of trans-
mission is a frequent condition and is character-
ized by normal mental development, neurologic
status, and CT findings. Although it is usually
impossible to confirm a diagnosis of true megal-
encephaly without conducting neuropathologic
studies, this condition has been observed in indi-
viduals of normal intelligence (i.e., Byron).
Nonprogessive pathologic megalencephaly
is a rare condition usually observed at birth and
is associated with mental retardation and epilep-
sy. Neuropathologic studies disclose mild to se-
vere cerebral malformations such as polymicro-
gyri a, pachygyria, neuroblastic heterotopias in
the white matter, mild cytoarchitectonic abnor-
malities of the cerebral cortex, partial agenesis
of the corpus callosum, and dense groups of
glial cells in the white matter (3). An unusual
case of megalencephaly combined with lipoma-
tosis and angiomatosis has been reported (1).
Cerebral and Cranial Malformations
Unilateral megalencephaly (see Sect. 1.4.1)
may be isolated or associated with hemihyper-
trophy of the homolateral limbs and truncal
half. It may be associated with intractable uni-
lateral seizures of early onset and with mental
retardation. A neuropathologic examination of
the abnormal hemisphere shows abnormal gyri,
a thick cortex, lack of lamination, and many
subcortical heterotopias with some multinucle-
ate cells (2). (For CT findings, see Sects. 1.4
and 2.5.)
References
1. Bannayan GA (1971) Lipomatosis, angiomatosis and
megalocephalia. A previously undescribed congenital
syndrome. Arch Pathol 92: 1-5
2. Bignami A, Palladini G, Zapella M (1968) UniJateral
megalencephaly with nerve cell hypertrophy. An ana-
tomical and quantitative histochemical study. Brain
Res 9:103-114
3. Dekaban AS, Sakuragawa N (1977) Megalencephaly.
In: Vinken Pl, Bruyn CW (eds) Handbook of clinical
neurology, vol 30. North Holland, Amsterdam,
pp 647-660
4. Laurence KM (1964) Megalencephaly. Dev Med
Child N eurol 6: 638-640
2 Neurocutaneous Syndromes
The generic term "neurocutaneous syndrome"
applies to a group of diseases sharing both neu-
rologic and cutaneous features. Both types of
symptoms may occur in isolation but most often
they are associated with various visceral, endo-
crinal, and osseous lesions, the variety of which
can pose a true diagnostic challenge. The desig-
nation neurocutaneous syndrome is synony-
mous with phakomatosis, a term coined by Van
der Hoeve (1) to mean birthmark or mother-
mark. Tumors are observed in four diseases of
this group: neurofibromatosis, tuberous sclero-
sis, Gorlin's syndrome, and Hippel-Lindau syn-
drome. The latter is extremely rar~ in childhood,
and hemangioblastomas, which are only rarely
observed with Hippel-Lindau syndrome, are de-
scribed in the chapter on cerebral tumors. Most
often, the cutaneous and neurologic signs con-
stitute a well-defined clinical syndrome, al-
though sometimes different cerebral lesions can
give rise to the same neurologic symptoms. In
other cases, the cutaneous signs appear in isola-
tion, but their mere occurrence leads to the
search for neurologic impairment. The essential
function of neuroradiologic examinations is to
allow prompt detection of these diseases and
an exact description of the cerebral lesions un-
derlying them in order to anticipate complica-
tions, give adequate treatment, and provide ge-
netic counseling.
Reference
1. Van der Hoeve J (1932) Eye symptoms in phakoma-
tosis. The Doyne memorial lecture. Trans Ophtal Soc
UK 52: 308-401
2.1 NeUl:ofibromatosis
Von Recklinghausen's neurofibromatosis is a
relatively common disease. It is inherited as a
dominant, autosomal trait with a frequency of
1 in 2,500-3,000 (14). Its genetic penetrance is
higher than 98%. In childhood, two out of three
cases are familial (11), and the first symptoms
are often precocious, appearing in one -third
of cases before the age of 1 year (8). Its evohl-
tion is inexorably progressive, but with marked-
ly variable expressivity. The variability of the
disease is such that there is no constant clinical
histologic or biological sign in all its forms.
The most reliable diagnostic criteria seem to
be the cafe-au-Iait spots, the iris nodules or so-
called Lisch spots, and a family history of the
disease. The cafe-au-Iait spots are present in
98% - 99% of the patients with neurofibroma-
tosis (8, 14). The spots may be present at birth,
but may take months to appear. Though six
large spots are required for positive diagnosis
in adults, two large spots on the trunk are un-
usual in childhood. Lisch nodules or iris hamar-
tomas are present in 94% of the older patients,
but in only 28% of the children under 6 years
of age (14). A positive family history can be
found in more than 60% of the cases (8, 11).
Finally, the existence of another type of lesion,
especially osseous or neurologic contributes
greatly to diagnostic confidence. The frequency
of the different locations noted for the lesions
of neurofibromatosis in a pediatric series (Hapi-
tal St. Vincent de Paul, 1965-81) and in a neu-
roradiologic pediatric series (Hapital Foch,
1978-82) overlapping partially with the first is
given in Tables 2.1 and 2.2.
Little is known about the pathogenesis of
neurofibromatosis except in broad terms. The
origin of the cellular components of most of
86 Neurocutaneous Syndromes

Table 2.1. Frequency (%) of the different manifestations of neurofibromatosis in a pediatric series of 171 observa-
tions (St. Vincent de Paul, 1965-1981) (8)

Cutaneous signs 98 Central nervous system lesions and signs 52

Cafe-au-Iait spots 98 intracranial tumor 28
achromic nevi 5 glioma of optic pathways 22
xanthomas 3 other tumors 6
angiomas 6 subtentorial 2
lymphangiomas 2 aqueductal stenosis 3
tumor of the medulla 1
Skeletal signs 47 seizures 9
vertebral abnormalities 33 mental retardation 15
scoliosis 29 macrocrania not noted
scoliosis isolated 14
scoliosis dysplastic 15 Neurofibromas 32
kyphosis 7 location: head 6
spinal canal enlargement 3,5 neck 7,5
abnormalities of the limbs 19 limbs 7,5
pseudoarthrosis 6 thoracoabdominal 13
incurvation 4 spinal 4
asymmetry 9 malignant tumors 3,5
sphenoidal dysplasia 8
calvarial defects 4 Miscellaneous lesions and signs
ophthalmic lesions 7
facial disfigurement 5
statural hypotrophy 6
precocious puberty 2

the characteristic lesions (cafe-au-Iait spots,
neurofibromas, central nervous system tumors)
is situated in the neuronal crest but none of
the lesions encountered in neurofibromatosis
has any definite, characteristic histologic traits
(4, 17). The increase in nerve growth factor in
forms with central nervous involvement remains
an inconstant observation in the other forms
(6). Whatever their form the manifestations of
neurofibromatosis consist either of dysplastic or
expansive lesions. Among the craniocerebral
manifestations, the most frequent in our series
were tumoral lesions.
2.1.1 Optic Gliomas
The gliomas of the optic pathways (Figs. 2.1-
2.3, 2.5) are the most frequent intracranial tu-
mors in neurofibromatosis. Their histologic and
clinical signs are identical to those of the other,
primitive optic gliomas, except that the age at
diagnosis is clearly lower than for the primitive
optic gliomas, being generally under 7 years,
with a peak around 4-5 years (8, 10, 17). Sys-
tematic examinations of children with neurofi-
bromatosis without ophthalmologic complaints
have resulted in the detection of optic gliomas
in two cases in our series. Depending on the
series (8, 10, 11), the incidence of neurofibroma-
tosis in optic gliomas varies from 30% to 90%;
in our series, it is about 60%.
An enlargement of one or both optic foram-
ina on oblique orbital views is a good diagnostic
sign, though with two restrictions:
1) Slight variations in size and, asymmetry of
optic foramina may be found in a normal
population (7). In patients with neurofibro-
matosis, an enlargement of the optic foram-
ina does not necessarily indicate optic
glioma, it may also be the sign of minor
sphenoidal dysplasia.
2) Normal optic foramina do not preclude a
diagnosis of optic glioma, especially when
the glioma involves only the chiasma or only
the intraorbital part of the optic nerve.
The most reliable radiologic analysis of the
optic foramina is obtained by axial tomogra-
phies that explore the entire length of the two
Table 2.2. Clinical and CT manifestations in 65 children with neurofibromatosis involving the head

Patient Age at CT Clinical manifestations CT results

scan in years

1,2,3 5,7,9 cafe-au-lait spots normal

4,5 15, 16 dysplastic scoliosis normal
6 10 large, extracranial NF normal
7 15 mental retardation normal
8 10 mental retardation, macrocrania normal
9,10,11 4 1 / 2 ,1,13 macrocrania normal
12, 13, 14 7,7,11 short stature normal
15 15 precocious puberty normal
16 61 / 2 infantile spasms normal
17 14 partial epilepsy normal
18, 19 1, 10 multiple spinal NF normal
20 10 IH CG, brain stem tumor
21 3 IH CG
22 10 IH cerebellar spongioblastoma
23 18 IH cerebellar spongioblastoma falx meningioma
24 7 IH SD, tumor of third ventricle
25 9 IH stenosis of aqueduct
26 6 IH temporoparietal glioma
27 5 TH, progressive hemiparesis CG, basal ganglia tumor
28 10 IH, progressive hemiparesis basal ganglia tumor
29 7 IH, visual complaints CG, ONG, stenosis of aqueduct
30 8 TH, visual complaints CG
31 19 IH, cerebellar syndrome stenosis of aqueduct
32 10 TH, pyramidal signs, short tumor of third ventricle
stature, polyuropolydipsia
33, 34, 35 3,5,7 visual complaints CG
36 10 IH, diplopia temporoparietal glioma
37 3 visual troubles CG,ONG
38 17 visual troubles CG,ONG,SD
39,40 20,2 pulsating exophthalmos SD, palpebral NF
41,42 5,14 pulsating exophthalmos SD, palpebral NF
43 4 strabismus CG
44 4 hemiplegia, strabismus CG
45 4 unilateral optic atrophy CG
46 8 bilateral proptosis, pyramidal CG, ONG, tumor of cervical medulla
signs, walking difficulties
47 8 irradiated CG CG,ONG
48 14 irradiated CG CG, cerebral atrophy, basal ganglia calcifications
49 6 spastic tetraparesis NF in foramen magnum
50 17 cervical NF, hemiparesis NF in foramen magnum, SD
51 15 spinal tumor occipital glioma
52 11 spastic paraparesis stenosis of aqueduct
53 2 "congenital hemiplegia" CG,ONG
54 8 partial motor epilepsy calcified, rolandic tumor
55 9 partial motor seizure cystic, thalamic tumor
56 17 unilateral deafness bilateral neurinoma, falx meningioma
57 13 traumatic subdural hematoma SD
58 9 palpable calvarial defect calvarial defect
59 4 NF, calvarial defect NF, calvarial defect
60 8 NF in the region of the ear NF,SD
61 4 precocious puberty CG, malformation of posterior fossa
62 3 short stature unilateral ventricular enlargement
63 8 cafe-au-Iait spots SD
64 5 IH, cerebellar syndrome neurinoma
65 8 IH, cerebellar syndrome cerebellar ependymoblastoma

IH, increased intracranial pressure; CG, glioma of chiasm; ONG, glioma of optic nerve; NF, neurofibroma;
SD, sphenoidal dysplasia
88
foramina simultaneously. This procedure avoids
an artificial magnification secondary to varia-
tions in incidence (5, 9).
On CT scans, gliomas of the optic pathways
in neurofibromatosis appear identical to primi-
tive gliomas (see Chap. 7) except for the pres-
ence of associated lesions, such as sphenoidal
dysplasia, extracranial, orbital neurofibromas,
or a second tumor located in the brain stem
(Fig. 2.3) or in the cerebellum (Fig. 2.5). The
slow clinical evolution is compatible with histo-
logic findings showing that optic gliomas in neu-
rofibromatosis are always benign fibrillary
spongioblastomas.
2.1.2 Hemispheric and Basal Ganglia Tumors
In contrast to optic gliomas, histologic analysis
of tumors located in the cerebral hemispheres
and the basal ganglia yields information that
is extremely variable and often unforeseen when
compared with clinical data and the CT scans.
The frequency of malignant tumors was rela-
tively high in our series. In more than 10% of
cases with intracranial tumors, there were multi-
ple (8) tumors, with a high frequency of optic
gliomas (Fig. 2.5).
2.1.3 Neurinomas and Meningiomas
The incidence of meningiomas and neurinomas
of the eighth cranial nerve is high in adult pa-
tients with neurofibromatosis, but the occur-
rence of these tumors is rare in childhood. Ex-
cept for two neurinomas seen at the age of 5
and 7 years respectively, all the other neurino-
mas were diagnosed in patients over 15 years
old. An association between double neurinomas
and multiple memnglOmas was frequent
(Fig. 2.7).
2.1.4 Macrocrania
Macrocrania is frequently seen in adults, but
rarely in children under 5 years of age. Usually,
this macrocrania has no detectable cause (19).
It may be asymmetrical, and in such cases, we
Neurocutaneous Syndromes
have observed unilateral enlargement of the lat-
eral ventricle and of the arachnoid spaces. Less
frequently, secondary macrocrania due either to
tumoral obstruction of CSF circulation, as ob-
served in optic gliomas and posterior fossa tu-
mors, or to a stenosis of the aqueduct can be
observed.
2.1.5 Hydrocephalus Resulting from Stenosis
of the Aqueduct
Stenosis of the aqueduct is seen essentially in
children over 8 years old (8) and in young
adults. Its exact mechanism has not yet been
determined. Stenosis by subependymal glioma
has been described by Russel (15). Its clinical
presentation generally consists of slowly pro-
gressive macro crania and intracranial hyperten-
sion; mental retardation is frequent: fiye of
seven cases. Skull films show macrocrania, en-
larged sutures, convolutional markings, and a
large sella turcica caused by erosion of the dor-
sum.
CT scans show indirect signs of the stenosis
of the aqueduct by revealing often marked dila-
tation of the third and the lateral ventricles con-
trasting with a small fourth ventricle (Fig. 2.8).
CT scans must be made after contrast enhance-
ment to be able to eliminate the possibility of
a tumor located in the aqueductal region (16).
. We generally carry out regular follow-up exami-
nations to monitor the regression of ventricular
dilatation after ventriculocisternostomy. This
allows observation of the integrity of the quadri-
geminal region, which is more accessible to ex-
amination after ventricular distension has been
reduced.
2.1.6 Cranial Neurofibromas
Neurofibromas are benign tumors composed of
various combinations of neurons, Schwann
cells, fibroblasts, vascular elements, mast cells,
and occasionally pigment cells (14). In the crani-
allocation, they lead to functional impairment
and disfigurement. They nearly always involve
the skin, but may occur in deeper peripheral
nerves and blood vessels innervated by the auto-
nomic nervous system.
Neurofibromatosis
The most frequent lesions in our series oc-
curred in the orbital region and the external
temporal fossa: they were generally associated
with osseous dysplasia. Extension and ramifica-
tions of neurofibromas suspected on clinical ex-
amination were often found more complex after
CT examination. The latter can disclose the un-
suspected extension of palpebral neurofibromas
into the orbits, where they may result in mass
lesions and mimic enlargement of the orbital
muscles. Larger neurofibromas may lead to an-
terior or lateral displacement of the eyeball
(Figs. 2.11).
Less frequent were neurofibromas of the
scalp, the ear, or the occipital region. Neurofi-
bromas of the mixed cranial nerves and the first
cervical nerve roots often show an insidiously
progressive clinical symptomatology, with bul-
bar and motor signs evolving slowly into tetra-
plegia. Plain films show a widening of the fora-
men magnum and the superior cervical canal
and, in the case of a dumbbell neurofibroma,
a thinning of the transverse processes or pedi-
cles.
Detection of neurofibromas, extending from
the posterior fossa to the cervical canal is often
difficult with CT because the density of neurofi-
bromas is nearly identical to that of the cerebral
tissue, before and after contrast enhancement.
Thus, the only signs observed were a full, large
foramen magnum and a large cervical canal.
The I.R. injection of metrizamide always helped
to determine the extension of the neurofibromas
into the spinal canal and the posterior fossa
(Fig. 2.13).
2.1.7 Buphthalmos
Buphthalmos - an increase in the diameter of
the eyeball - is caused by congenital glaucoma;
it may be observed beginning in the neonatal
period (18). The association of buphthalmos
with palpebral neurofibroma and osseous dys-
plasia is frequent (1), but the palpebral neurofi-
broma generally appears after the buphthalmos
(20). Secondary development of buphthalmos
is rare. CT clearly shows the asymmetry of the
eyeballs and the thickening of the sclerae of the
buphthalmic eye (Figs. 2.9, 2.11).
89
2.1.8 Osseous Dysplasia
The most frequent cranial osseous dysplasia is
located in the sphenoid bone (2, 13). Predomi-
nantly unilateral, it always involves the larger
sphenoidal wing, reducing part or all of it to
a fibrous membrane separating the orbit from
the temporal fossa (Fig. 2.9). The lesser sphe-
noidal wing is usually thinned, verticalized
(Fig. 2.9) and the sella turcica is enlarged
(Fig. 2.9). In most extreme cases, half of the
sphenoid bone may be absent (Fig. 2.11).
Arachnoid spaces contiguous to the sphenoidal
dysplasia are constantly enlarged (Fig. 2.12),
but with no real arachnoid cysts. Sphenoidal
dysplasia is nearly always associated with orbi-
tal neurofibromas or optic gliomas, but sellar
enlargement in sphenoidal dysplasia does not
necessarily mean optic glioma. Larger sphenoj-
dal wing dysplasia is the most frequent cause
of pulsatile ex ophthalmia in infancy and child-
hood (18). Calvarial defects (12) are most typi-
cal when adjacent to the lambdoidal suture
(Fig. 2.12). Extensive calcifications of the cho-
roid plexus or tentorium (Fig. 2.13) may occur
in neurofibromatosis.
References
1. Anderson JR (1939) Hydrophthalmia or congenital
glaucoma. Its causes, treatment and outlook. Uni-
versity Press, London Cambridge, pp 158-179
2. Binet EF, Kieffer SA, Martin SH, Peterson HO
(1969) Orbital dysplasia in neurofibromatosis. Radi-
ology 93: 829-833
3. Crowe FW, Schull WJ (1953) Diagnostic impor-
tance of cafe-au-lait spots in neurofibromatosis.
Arch Intern Med 91: 758-766
4. Crowe FW, Schull WJ, Neel JV (1956) Multiple neu-
rofibromatosis. Thomas, Springfield
5. Evans RA, Schwartz JF, Chutorian AH (1963) Ra-
diologic diagnosis in pediatric ophtalmology. Radiol
Clin North Am 1 :459-495
6. Fabricant RN, Todaro GJ, Eldridge R (1979) In-
creased levels of nerve growth factor crossreacting
protein in "central" neurofibromatosis. Lancet I: 4-
7
7. Goalwin HA (1927) One thousand optic canals. A
clinical, anatomic and roentgenologic study. JAMA
89:1745-1748
8. Grimbaud G (1981) Maladie de Recklinghausen
chez l'enfant. Etude retrospective de 171 cas. Thesis,
Paris, CHU Pitie-Salpetriere
90
9. Harwood-Nash DC (1970) Axial tomography of the
optic canals in children. Radiology 96: 367-374
10. Harwood-Nash DC (1972) Optic gliomas and pedi-
atric neuroradiology. Radiol Clin North Am
10:83-100
11. Holt JF (1978) Neurofibromatosis in children. Am
J Roentgenol 130: 615-639
12. Joffe N (1965) Calvarial bone defects involving the
lambdoid suture in neurofibromatosis. Br J Radiol
38:23-27
13. LeWald L T (1933) Congenital absence of the su-
perior orbital wall associated with pulsating exo-
phtalmos: report of four cases. Am J Roentgenol
30:756-764
14. Riccardi VM (1981) Von Recklinghausen neurofi-
bromatosis. N Engl J Med 305: 1617-1628
15. Russell DS (1949) Observations on the pathology
of hydrocephalus. Her Majesty's Stationary Office,
London
<l Fig. 2.1 a-d. A 2-year-old girl: cafe-au-Iait spots, familial
Neurocutaneous Syndromes
16. Salvolini U, Masquini U, Gasquez P, Babin E (1978)
Von Recklinghausen's disease and computed to-
mography. J Beige Radiol 61: 313-318
17. Stern J, Jacobiec FA, Housepian EM (1980) The
architecture of optic nerve gliomas with and without
neurofibromatosis. Arch Ophthalmol 98: 505-511
18. Walsh FB, Hoyt WF (1969) Clinical neurophtalmo-
logy, vol 3,3rd edn. Williams and Wilkins, Balti-
more, pp 1942-1957
19. Weichert KA, Dine MS, Benton C, Silverman FN
(1973) Macrocranium and neurofibromatosis. Radi-
ology 107: 163-166
20. Wheeler JM (1937) Plexiform neurofibromatosis
(Von Recklinghausen's disease) involving choroid
ciliary body and other structures. Am J Ophthalmol
20:368-375
history of neurofibromatosis, hemiplegia considered as
congenital. CT after contrast enhancement: large glioma
of the chiasma and the two optic nerves; extension into
the two cerebral hemispheres; slight left proptosis
Fig. 2.2 a-c. A 5-year-old girl: cafe-au-Iait spots, familial
history of neurofibromatosis, precocious puberty at 4
years. CT after contrast enhancement shows a small
glioma of the chiasma. The glioma has the same density
as the cerebral tissue. Hamartoma, a possible differential
diagnosis, could be eliminated on image (a) showing the
pituitary stalk behind the tumor
\1
Neurofibromatosis 91

Fig. 2.3 a-d. Girl of 3 years and 10 months: cafe-au-lait

spots, cervical neurofibromas, diminution of visual acu-
ity. CT after contrast enhancement: glioma of the two
optic nerves and the chiasma (a, b); tumoral enlargement
of the upper cervical medulla (c, d)
Fig. 2.4 a-d. A 17-year-old patient: cafe-au-lait spots,
multiple neurofibromas, recent appearance of signs of
increased intracranial pressure, cerebellar syndrome. CT
after contrast enhancement: left-sided cystic cerebellar
spongioblastoma, tentorial calcifications (a, b); partially
calcified meningioma (c, d) implanted in the olfactory
fossae (b); enlargement of the third and lateral ventricles

Fig. 2.5 a-c. A 13-year-old

boy: familial history of
neurofibromatosis, irradiat-
ed optic glioma, signs of
increased intracranial pres-
sure of recent onset. CT
after contrast enhance-
ment: large, infiltrating
cerebellar tumor (histolo-
gy: ependymoblastoma),
persistant glioma of the
chiasma (b, c) enlargement
of the lateral ventricles

Fig. 2.6 a-c. Boy of 6

years: cafe-au-lait spots,
recent appearance of signs
of increased intracranial
pressure, diplopia, paresis
of the left 6th cranial
nerve. CT after contrast
enhancement: left temporo-
parietal glioma with a cys-
tic component
92 Neurocutaneous Syndromes

Fig. 2.7 a--c. Patient of 17 years: cafe-au-Iait spots, cervi- after contrast enhancement: bilateral neurinoma of the
cal neurofibroma, progressive loss of hearing acuity. CT 8th cranial nerve (a, b), falx meningioma (c)

Fig. 2.8 a--c. A 16-year-old patient: cafe-au-Iait spots, largement of the third and lateral ventricles contrasting
thoracic neurofibromas, unsteady gait, signs of increased with a small fourth ventricle; these are indirect signs
intracranial pressure of recent onset. CT: enormous en- of aqueductal stenosis

Fig. 2.9 a--c. A 5-year-old boy: cafe-au-Iait spots, neu- metrical enlargement of the left eyeball, and a sphenoidal
rofibroma of the temporal region and of the upper eye- dysplasia with partial absence of the left larger sphenoi-
lid, buphthalmos. CT clearly shows the neurofibroma dal wing and sellar enlargement
of the temporal region and the upper eyelid, the asym-
Neurofibromatosis 93

Fig. 2.10 a--c. A 14-year-old boy: multiple neurofibro- extension to the orbital muscles, sphenoidal dysplasia
mas, some located in the temporal and palpebral region, with partial hypoplasia of the larger sphenoidal wing,
anterior and lateral displacement of the eyeball. CT dis- enlargement of the right orbit
closes buphthalmos (a, c), palpebral neurofibroma with

Fig. 2.12 a, b. A 9-year-old boy: cafe-au-lait spots, fami-

lial history of neurofibromatosis, palpable occipital cal-
varial defect. CT shows the defect and absence of asso-
ciated lesions

Fig. 2.11 a-d. A 25-year-old patient: multiple neurofi-

bromas, macrocrania, facial disfigurement. CT: left-
sided temporopalpebral neurofibroma, buphthalmos
sphenoidal dysplasia with absence of the larger wing
replaced by a membrane bulging into the orbit (a, b),
hypoplasia of the left half of the sella turcica, enlarge-
ment of the contiguous arachnoid spaces (b-d)

Fig. 2.13 a-d. A 6 1 / z-year-old girl: familial history of I>

neurofibromatosis, progressive tetraparesis, pyramidal
syndrome. CT: erosion and thinning of the lateral
masses and the right transverse process of Cl, enlarge-
ment of the foramen magnum, intraspinal neurofi-
broma, outlined by dense metrizamide, displacing the
medulla to the left (a), tentorial calcifications
94
2.2 Tuberous Sclerosis
As described by Bourneville, tuberous sclerosis
is a hereditary disease characterized by the de-
velopment of nodules in the brain cortex. Men-
tal retardation, epilepsy, sebaceous adenomas
of the face, depigmented naevi, and various tu-
mors are its most frequent clinical signs. The
frequency of tuberous sclerosis is probably high-
er than 1 in 20000 (2). Its heredity has a domi-
nant trait with variable expressivity, especially
with regard to the neurologic symptoms. Over
60% of the childhood cases result from a recent
mutation, which does not appear to be in-
fluenced by the parental age (2, 33). It is, how-
ever, often difficult to check whether apparently
healthy parents are quite free of recurrence risk,
entailing thorough clinical and paraclinical ex-
aminations. At the present, even when com-
bined with CT, these investigations cannot de-
finitely rule out a latent trait (16, 18, 5). Exten-
sive reviews have recently been published (3, 8,
17).
Neuropathology (1): The macroscopic pattern of
the cerebral convolutions is usually within nor-
mal limits or only slightly disturbed by the pres-
ence of sclerotic patches, the tubera. These are
pale masses of stony-hard consistency. On mi-
croscopic examination of the sclerotic patches,
the laminar organization of the cerebral cortex
appears completely disturbed by invading fi-
brillary astrocytes. The neuron cells are scanty,
and one observes the presence of groups oflarge
cells devoid of processes, sometimes exceeding
the size of the giant Betz cells and often contain-
ing two or three peripheric nuclei. The myelina-
tion in the sclerotic convolution is disturbed.
Massive calcifications can be seen.
An important pathologic feature is the pres-
ence of fibrocellular nodules partially embedded
in the basal ganglia or beneath the ependyma
of the lateral ventricles, into which they project
like" gutterings of a candle". Nodules of a simi-
lar type are also observed in the white matter
below the floor of the cortical sulci, in the cere-
bellum, or in the brain stem. They are composed
of an aggregation of multinucleated round cells
Neurocutaneous Syndromes
intermingled with fibrillary glial tissue. Ferro-
calcic deposits are frequent. These nodules may
obstruct the foramen of Monro and lead to hyd-
rocephalus.
Symptomatic space-occupying lesions are
usually classified as subependymal giant-cell as-
trocytomas (1). They are attached to the septum
pellucidum or the walls of the lateral ventricles.
When large or multiple, they may lead to ob-
structive hydrocephalus by obstruction of the
foramen of Monro.
Neurologic manifestations: Epilepsy and mental
retardation are the most frequent neurological
signs. The epilepsy may appear at an age rang-
ing from 1 week to over 8 years. In about half
the patients infantile spasms are encountered,
and in some series tuberous sclerosis appears
as the most frequent cause of infantile spasms.
In some cases the appearance of the spasms pre-
cedes that of the cutaneous signs (12). The
spasms may be atypical, either partial or asym-
metrical, and may be preceded by partial fits.
In the other half of the cases, partial motor fits
of long duration, sometimes febrile, appear by
the end of the first year, sometimes with tran-
sient or long-lasting postictal defect. Later on,
they are followed by partial complex seizures.
In some older children, partial complex or gen-
eralized seizures are observed (12). The EEG
discloses single or multiple foci of spikes, or a
hysarrhythmic or near-hypsarrhythmic appear-
ance (12).
Mental retardation is observed in two-thirds
of the patients (13) dominantly in speech acqui-
sition and social contact; disturbances of char-
acter and behaviour may be very pronounced.
Mental retardation is always present when the
seizures have appeared during the first year of
life, and there is certainly a relationship between
its occurrence and the precocity of onset of the
epilepsy. Progressive mental deterioration or
sleepiness should not be overlooked as they may
be the manifestations of an obstructive tumoral
hydrocephalus.
Focal neurologic defects are infrequent and
often minor.
Tuberous Sclerosis
Cutaneous manifestations are of four types:
1) Depigmented nevi (7) are present at birth
in 20% of the cases, or appear over a period
of a few weeks during the first year, with a mean
age of 5 months (13). They consist of flat, well-
delimited, round or oval areas of variable size.
As they are the first cutaneous sign to appear,
they are of great diagnostic value, provided that
three or more of them can be seen. Areas of
discolored hair also bear great diagnostic value
(10).
2) Adenoma sebaceum lesions appear across
the nose, slightly extending to both cheeks. They
are most often observed after the age of 4 years,
rare before 2 years, and only exceptionally pres-
ent at 3 months (13) or even at birth. At onset,
they consist of multiple, pink, round, noncon-
fluent nodules of 1-2 mm in diameter. Later on,
they slowly and progressively grow, especially
after puberty. They consist of hypertrophied se-
baceous glands, connective tissue, and small
vessels.
3) Subungual fibromas, rare before 5 years
of age (13), appear around the nails of the
fingers and the toes. They consist of angioma-
tous and fibrous tissue.
4) Shagreen patches consist of irregular,
faintly nodular roughening of the forehead, the
lower back, or even the scalp. They may appear
during the first year but most often after 5 years.
At onset they are flat and pink, but they pro-
gressively assume the adult aspect.
Ocular manifestations: The retinal phakomas
may be large and single when lying at the edge
of the optic nerve, or smaller and flattened when
located elsewhere on the fundus; they some-
times calcify. Their microscopic structure is very
similar to that of the subependymal nodules of
the brain. Their frequency varies among the dif-
ferent series, ranging from 4% to 56% (3, 11,
13). They may be observed from the age of
3 months (13), and may precede the other mani-
festations of the disease (17). They are usually
clinically mute, and their discovery is of impor-
tance for the diagnosis. Papilledema only occurs
in the rare cases of intracranial hypertension
secondary to a tumoral obstructive hydrocepha-
lus.
95
Cardiac manifestations: These result from single
or multiple rhabdomyoma. They may be asymp-
tomatic or may cause dysrhythmia by an auricu-
loventricular conduction block. These distur-
bances can be observed from birth (4).
Renal manifestations: The renal tumors are gen-
erally located in the cortex; they are usually
small and sometimes cystic. They contain vary-
ing proportions of smooth muscle fibers, adi-
pose tissue, blood vessels, and round cells orig-
inating in the neural crest and the neurilemma.
Clinical expression is rare in childhood, and
the tumors are generally discovered on urogra-
phy, ultrasonography, or even autopsy. How-
ever, in two of our patients suffering from epi-
lepsy, the discovery of a renal mass led to the
diagnosis.
The other localization -lung, thyroid, liver, duo-
denum, ovary - are most unusual in children
(8).
Cranial radiography is normal in the first year
of life. Multiple spotty calcifications may be
from the 2nd or 3rd year.
CT scan: The subependymal nodules are the
most constant sign (9). They can be seen from
the first months of life, even as soon as
2-!- months in one case of our series (Figs. 2.14,
2.16). They are located around the lateral ventri-
cles, the third ventricle, rarely in the cerebellum
(15) or the brain stem. They are most often mul-
tiple, round, and do not enhance after contrast
injection. Their size and degree of calcification
progress with increasing age (9) (Fig. 2.15).
Cortical areas of edema-type density are
sometimes seen from the first year of life (6,
14), most often in the frontal or the parietal
lobes. They are not modified by contrast en-
hancement. They may correspond to the cortical
tubera and the surrounding area of demyelina-
tion (3) (Figs. 2.14, 2.17, 2.18). They were ob-
served in 37% of cases in a series of patients
of all ages (9), less frequently in our series of
pediatric patients (Table 2.3) (Figs. 2.17, 2.18).
Subependymal astrocytomas (9, 11) are
asymmetrical, often calcified masses obstructing
the foramen of Monro; they enhance after con-
trast injection (Fig. 2.20).
96 Neurocutaneous Syndromes

Table 2.3. Correlations between clinical manifestations 4. Fritsch G, Beitzke A, Sager WD (1980) Tuberose
and CT results in 40 cases of tuberous sclerosis Hirnsklerose: Erstmanifestation als cardiale Rhyth-
musstorung bei einem Neugeborenen. Pediatr Ra-
No. Age Seizures Achro- Sub- Cortical dioI15:137-142
of at CT mic epen- tubera 5. Gastaut A (1981) Personal communication
cases nevI dymal 6. Garrick R, Gomez MR, Houser OW (1979) Demye-
masses lination of the brain in tuberous sclerosis: computed
tomography evidence. Mayo Clin Proc 54: 685-689
12 2-9 9 spasms 11 10 4 7. Gold AP, Freeman JM (1965) Depigmented naevi:
months 3 partial fits the earliest sign of tuberous sclerosis. Pediatrics
and spasms 35: 1003-1005
28 1-17 27 partial fi ts 28 27 7 8. Gomez MR (ed) (1979) Tuberous sclerosis, 1st vol.
years 1 generalized Raven Press, New York, p 246
seizures 9. Houser OW, MacLeod RA (1979) Roentgeno-
graphic experience at the Mayo Clinic. In: Gomez
Ventricular enlargement: 3 patients (4-14 years) MR (ed) Tuberous sclerosis. Raven Press, New
Subependymal tumors: 2 patients (7, 14 years) York, pp 27-53
10. MacWilliam RC, Stephenson JBP (1978) Depig-
mented hair. The earliest sign of tuberous sclerosis.
Arch Dis Child 53:961-962
Uni- or bilateral dilatation of the lateral ven- 11. Monaghan HP, Krafchik BR, MacGregor DL, Fitz
tricles may be observed. Although Houser and CR (1981) Tuberous sclerosis complex in children.
MacLeod (9) have suggested that the ventricular Am J Dis Child 135:912-917
dilatation may be secondary to an active 12. Pampiglione G, Moynahan EJ (1976) The tuberous
atrophic process, it most often results from a sclerosis syndrome: clinical and EEG studies in
100 children. J Neurol Neurosurg Psychiatry 39:
blockage of the foramen of Monro (11) 666-673
(Fig. 2.19). 13. Ponsot G, Lyon G (1977) La sclerose tube reuse de
Bourneville. Arch Franc Pediat 34: 9-22
14. Probst FP, Erasmie U, Nergardh A et al. (1979) CT
References appearance of brain lesions in tuberous sclerosis and
their morphological basis. Ann Radiol 22: 171-183
1. Blackwood N, Corsellis JAN (1976) Tuberous scle- 15. Schafer JC, Berg BO, Norman D (1975) Cerebellar
rosis. In: Greenfield's Neuropathology, 3rd edn. Ar- calcifications in tuberous sclerosis. Arch Neurol
nold, London, pp 410-417 32:642-643
2. Bundey S (1969) Tuberous sclerosis: a genetic study. 16. Scotti LN (1980) The value of CT in genetic coun-
J Neurol Neurosurg Psychiatry 32:591-603 selling in tuberous sclerosis. Pediatr Radiol 9: 1-4
3. Donegani G, Grattarola FR, Wildi E (1972) Tuber- 17. Walsh FB, Hoyt WF (1969) Clinical neurophthal-
ous sclerosis, Bourneville disease. In: Vinken PJ, mology, 3rd vol, 3rd edn. Williams and Wilkins,
Bruyn GW (eds) Handbook of clinical neurology, Baltimore, pp 1959-1968
vol 14. Elsevier North Holland, New York, pp 340- 18. Wilson J, Carter C (1978) Genetics of tuberous scle-
389 rosis. Lancet I: 340
Tuberous Sclerosis 97

Fig. 2.14 a, b. A 5-month-old boy: neonatal cardiac in-

sufficiency by sub aortic rhabdomyoma removed at 3
weeks; at 5 months partial motor seizures followed by
infantile spasms; multiple achromic nevi. CT: mUltiple
subependymal nodules without calcifications (a), a single
frontal tuber

Fig. 2.16 a-d. A 5-month-old girl: neonatal cardiac ar-

rhythmia, atypical infantile spasms at 5 months, multiple
achromic nevi. CT: numerous calcified periventricular
nodules and hemispheric tubera

Fig. 2.15 a-d. A 6-month-old boy: infantile spasms with

onset at 4 months, multiple achromic nevi. CT at 6
months shows small, partially calcified periventricular
nodules; there are no discernable tubera (a, b). Repeat
CT at 4 years demonstrates increase in size and density
of the periventricular nodules; multiple tubera of edema-
type density now visible (c, d)

Fig. 2.17 a-d. Boy of 21/2 years: partial motor seizures I>
since the age of 3 months, mental retardation, severe
behavior disturbances. CT without contrast enhance-
ment: several periventricular nodules, multiple cortical
and subcortical tubera of edema-type density. One large,
left frontal tuber is calcified
98 Neurocutaneous Syndromes

Fig. 2.19 a, b. A 4-year-old boy: partial motor fits since

the age of 2 months, mental retardation, behavior prob-
lems, multiple achromic nevi and sebaceous adenomas.
CT: calcified periventricular nodules; one large nodule
obstructing the foramen of Monro leads to asymmetrical
ventricular enlargement

<l Fig. 2.18 a-d. A 7-month-old boy: at 6 months onset

of infantile spasms. EEG discloses an asymmetrical pat-
tern, cutaneous and fundoscopic examinations are nor-
mal. CT shows small noncalcified periventricular nod-
ules and hemispheric tubera

Fig. 2.20 a, b. A 14-year-old boy who was operated on

in the previous year for an intraventricular tumor. He
presents partial motor fits, the cutaneous symptoms of
tuberous sclerosis. CT after contrast enhancement shows
peri ventricular calcified nodules and a large dense tumor
in the right frontal horn and the anterior third ventricle
leading to obstructive hydrocephalus

Fig. 2.21 a--c. A 13-year-

old boy with partial and
generalized seizures since
the age of 6 months, men-
tal retardation, severe be-
havior disturbances. CT:
multiple periventricular
and intracerebellar calcified
nodules
Sturge-Weber Syndrome 99

2.3 Sturge-Weber Syndrome zures, the motor defect observed several weeks
or months later may be immediately spastic.
The EEG shows unilateral diminution of the
Sturge-Weber syndrome is a nonfamilial neu- basic rhythm (4).
rocutaneous syndrome that includes trigeminal Plain skull films are generally normal before
angioma (90%), pial angioma (100%), epilepsy the age of 1-2 years. In older children they may
(88%), neurologic focal deficit (50%), mental reveal curvilinear calcifications outlining the ce-
retardation (55%), and glaucoma (39%) (9). rebral convolutions. These calcifications are
The skin angioma is congenital, flat, and of typically posterior in location, but they may in-
port-wine color. It always affects the palpebral volve the whole hemisphere and even be bilater-
region and may extend to the forehead and the al. Exceptionally they have a spotty irregular
cheek. It usually covers the whole upper eyelid, distribution. Angiography occasionally permits
but in some rare cases is limited to the root opacification of the angioma with a tardive
of the nose (6). It most often persists, but may blush at the capillary venous stage; most often
clear with age in rare instances. Microscopically, it shows abnormal venous drainage with a
it consits of dilated capillaries with a single en- marked diminution of the cortical veins in the
dothelial cell layer. It may be widespread over angiomatous territory and a preferential drain-
the trunk and the limbs and may even be asso- age to the profound venous system (2).
ciated with Klippel-Trenaunay syndrome; the The CT appearance of the intracranial an-
two conditions are thus apparently intimately gioma is variable (7, 11, 14), but three typical
related. patterns are encountered. The first two patterns
The intracranial angioma is usually limited described below occur most often before the age
to the piamater, extending rarely to the dura of 1-2 years.
and the bone. It most often occupies the occipi- - CT without contrast enhancement shows a
tal or the parieto-occipital areas and is excep- clear asymmetry between the two cerebral
tionally bilateral (3). The angioma consists of hemispheres. On the angiomatous side the
small tortuous vessels of venous appearance hemisphere is dense and the lateral ventricle
that rarely enter the cortex. The calcifications and the arachnoid spaces are small (Fig. 2.22).
in the cortex and the underlying white matter After contrast enhancement the opacification
seem to appear initially in the wall of the small of the angiomatous territory and the adjacent
vessels, and probably result from repeated an- cerebral tissue is evident. The choroid plexus
oxic episodes (13). is dense and asymmetrically enlarged. There
A common embryologic origin of the skin are usually no calcifications (Fig. 2.23).
angioma and the intracranial angioma as an ab- - On CT after contrast enhancement the an-
normal development of the primordial capillary gioma appears as an area slightly denser than
system has been suggested by Morgan (13). the surrounding brain. It outlines the convo-
Glaucoma results from choroid angioma. It lutions of the temporal, parietal, or occipital
is sometimes associated with buphthalmos. lobe, possibly extending to the entire hemi-
The seizures usually appear during the first sphere or even to both hemispheres. The adja-
months of life. They are partial motor, tonic cent arachnoid spaces and the homolateral
or clonic, rarely inhibitory; infantile spasms are ventricle are clearly enlarged. Uni- or bilater-
seldom (12). The hemiplegia always follows the al hypertrophy of the choroid plexus is nearly
first prolonged seizures (1, 5). The hemiplegia constant. Calcifications may be seen within
is initially hypotonic, later becoming spastic, and at the borders of the angioma (Figs.
and the clinical appearance is thus reminiscent 2.24-2.26).
of the hemiconvulsive-hemiplegic syndrome (8). - The third CT pattern can be considered as
This suggests that the seizures may be responsi- an evolutive form of the two preceding pat-
ble for the motor defect or at least worsen it. terns. The angioma is excluded from the cir-
In observations with very early onset of the sei- culation, and there are large calcifications in
100 Neurocutaneous Syndromes

Table 2.4. Correlation between clinical symptoms and CT appearance in 30 cases of Sturge-Weber syndrome

Case Seizures Hemiplegia CT Ca1cifica- Cortical Ventricular Plexus Angioma Location

(age) (age) (age) tions atrophy enlargement hypertrophy contrast

1 5m 5m hydr. ++ + temp., occ.

2 3d 4m 4m + + + + + bi!. temp., occ.
3 6m 7m 8m + + + + par. temp., occ.
23m + + + + + temp., occ.
3y ++ + + + + temp., occ.
4 3d 5m 2y + + + + hem.
5 3m 1y 1,5 m + + + + occ.
6 4m 1y 7y + + + occ.
7 3m 1y 5y + + par. temp., occ.
8 1y 11y + + hydr. + + temp., occ.
9 3m 17m + + + + + hem.
10 1d 6m 6d ++ ++ hem.
11 10 y 10 y + +/- occ.
12 6m + + + + temp., occ.
13 6m 1y 7y ++ + par. + hem.
14 7d 1y 4y + ++ + ++ + bi!. hem.
15 4y 4y + + + occ.
16 6m 7m + + + hem.
17 3y 3y + + + occ.
18 21 m 16m + par., front.
19 1y 12 y + + + hem.
20 25m 3-4 y 14 y + occ.
21 6m 1y 7y + +/- + hem.
22 8m 8m ++ + + + hem.
23 2y 17 y + + + + par.,occ.
24 3y 4m + + + + hem.
4y + + + + hem.
25 2d 6m 8m + + + ++ hem.
26 6m 6m + + + temp., occ.
27 11y 11y + + + occ.
28 8m 8m 11 m + + hem.
29 7y 9y + + par. temp., occ.
30 3m 1y 13y ++ + par. + - par. temp., occ.

Abbreviations: occ., occipital; temp., temporal; par., parietal; front., frontal; par., porencephaly (always associated
with hydrocephalus); hydr., hydrocephalus; hem., hemisphere; bi!., bilateral
Note: In cases 11,13,28 the cutaneous angioma was absent

the adjacent cerebral tissue. Focal or general
cerebral atrophy is nearly always present. The
high and heterogenous density of the ca1cifi-
cations prevents correct detection of the per-
sisting angiomatous tissue. (Figs. 2.27, 2.28).
These CT patterns illustrate the evolutive
character of the angioma; richly vascularized
during the first years of life, it is progressively
excluded from the circulation. The uni- or bilat-
eral plexus hypertrophy may be interpreted as
an indirect sign of abnormal venous drainage.
Focal or general cerebral atrophy may be sec-
ondary to chronic ischemia and to the frequent
and often prolonged seizures.
Different CT patterns may occasionally be
encountered:
The angioma may have a multifocal appear-
ance with spotty, dense areas moulding sever-
al circumvolutions in the temporal, parietal,
or occipital lobe, rarely in the frontal lobe
(Fig. 2.29).
Repeated hemorrhages of the angioma may
induce cisternal blockage with communicat-
ing hydrocephalus (Fig. 2.27).
Sturge-Weber Syndrome
Focal atrophy and hydrocephalus may lead
to an evolutive porencephaly (10) as in three
of our observations (Fig. 2.28).
CT may be of interest in the early detection
of an intracranial angioma, suspected from the
presence of a congenital port-wine nevus, before
seizures have occurred. Indeed, antiepileptic
prophylactic treatment has been proposed (1,
6). In two cases in our series, CT confirmed
the existence of an intracranial angioma before
any neurologic sign had appeared.
The limits of the Sturge-Weber syndrome
are imprecise (Table 2.4). Twenty-one cases of
intracranial angioma without facial angioma
have been reported (13). Of the three cases of
this type in our series, CT appearance of the
angioma was typical in two; in the other, the
diagnosis was only established after the surgical
removal of a small occipital angioma.
References
1. Alexander GL (1972) Sturge-Weber syndrome. In:
Vinken PJ, Bruyn GN (eds) Handbook of Clinical
Neurology, vol 14. North Holland, Amsterdam,
pp 223-240
2. Bentson JR, Wilson GM, Newton TM (1971) Cere-
bral venous drainage pattern of the Sturge-Weber
syndrome. Radiology 101: 111-118
3. Boltshauser E, Wilson J, Hoare RD (1976) Sturge-
Weber syndrome with bilateral intracranial calcifi-
cation. J Neurol Neurosurg Psychiatry 39:429--435
4. Brenner RP, Sharbrough FW (1976) Electroence-
101
phalographic evaluation in Sturge-Weber syndrome.
Neurology 26: 629-632
5. Dulac 0, Roger J (1980) Semiologie de la maladie
de Sturge-Weber pendant les deux premieres annees
de la vie. Elements de diagnostic et orientation
therapeutique. In: Gastaut H, Pinsard N (eds) Path-
ologie cerebrale du nourrisson. 20eme colloque de
Marseille, 1979
6. Dulac 0, Larregue M, Roger J, Arthuis M (1982)
Maladie de Sturge-Weber. Interet de I'analyse topo-
graphique de I'angiome cutane pour Ie diagnostic
d'angiome pial associe. Arch Fran~ Pediat
39:155-158
7. Enzman DE, Hayward RW, Normal D et al. (1977)
Cranial computed tomographic scan appearance of
Sturge-Weber disease: unusual presentation. Radi-
ology 122:721-723
8. Gastaut H, Poirier F, Payan H et al. (1960) HHE
syndrome, hemiconvulsions, hemiplegia, epilepsy.
Epilepsia 1 :418--447
9. Gilly R, Lapras C, Tommas M et al. (1977) Maladie
de Sturge-Weber-Krabbe. Reflexions it partir de
21 cas. Pediatrie 32: 45-64 '
10. Guozdanovic V, Dogan S, Simunovic S et al. (1976)
Cranial computerized tomography in the diagnosis
of chronic infantile hemiplegia. In: Lanksch W,
Kakzer E (eds) Cranial computerized tomography,
vol 1. Springer, Berlin Heidelberg New York, p 435
11. Maki Y, Semba A (1979) Computed tomography
in Sturge-Weber diesease. Childs Brain 5: 51-56
12. Millichap JG, Bickford RG, Klass DW et al. (1962)
Infantile spasms, hypsarythmia and mental retarda-
tion. A study of etiology in 61 patients. Epilepsia
3:188-197
13. Norman MG, Schoene WC (1977) Ultrastructure
ofSturge-Weber disease. Acta Neuropathol37: 199-
205
14. Welch K, Naheedy MH, Abroms IF et al. (1980)
Computed tomography of Sturge-Weber syndrome
in infants. J Comput Assist Tomogr 4:33-36
102 Neurocutaneous Syndromes

<l Fig. 2.22 a-d. A 6-day-old boy: plain congenital an-

gioma of the whole right half of the face, clonic fits
of the left upper limb 24 h after delivery. CT before
contrast enhancement shows a right cerebral hemisphere
with a global increase in density when compared to the
left. This asymmetry is accentuated after contrast en-
hancement (c, d): the dense pial angioma outlines the
cortical convolutions and seems to have a mass effect,
since the homolateral ventricle is smaller than the con-
trolatral. Thc choroid plexus is enlarged

Fig. 2.24 a-d. A 17-month-old girl with typical trige-

minal angioma, clonic seizures since the age of 3 months.
CT after contrast enhancement: opacification of the an-
gioma is slight; in its center, curvilinear calcifications,
outline the cerebral convolutions; marked cerebral he-
miatrophy

Fig. 2.23 a-d. An 8-month-old girl: congenital port-wine

angioma of the root of the nose, first right-sided clonic
fits at 2 days of life, developmental retardation, hemiple-
gia noted at 6 months. CT after contrast enhancement
shows the hemispheric angioma, disappearance of the
contiguous arachnoid spaces, enlargement of the homo-
lateral ventricle
Sturge-Weber Syndrome 103

Fig. 2.25 a-c. Boy with congenital angioma of the right contrast enhancement shows right temporo-occipital an-
upper eyelid, forehead, cheek, and upper limb; prophy- gioma (a, b), hypertrophy of the choroid plexus, focal
lactic antiepileptic treatment. At the age of 3 years no cerebral atrophy
seizures have occurred, development is normal. CT after

Fig. 2.26 a-c. A 3-year-old girl: congenital angioma of right parieto-temporo-occipital region, global cerebral
the right palpebral region. First seizures at 6 months; atrophy with marked enlargement of the arachnoid
currently left-sided hemiplegia, mental impairment. CT spaces covering the angioma
without contrast enhancement: calcified angioma in the

Fig. 2.27 a-c. A 7-year-old girl without skin angioma: ing hydrocephalus treated by shunt opertion. CT shows
frequent seizures since the neonatal period, right hemi- calcified hemispheric angioma, left temporo-occipital
plegia, mental retardation, macrocrania by communicat- porencephalic cyst, unilateral hemiatrophy
104 Neurocutaneous Syndromes

Fig. 2.28 a-c. A 17-year-old patient: plain congenital no motor defect. CT after contrast enhancement shows
angioma of the whole right half of the face, first partial small opacified parieto-occipital angioma with several
motor seizures at 2 years, normal mental development, spotty calcifications, enlarged choroid plexus

<1 Fig. 2.29 a-d. A 12-year-old girl: small angioma of the

root of the nose and the right upper eyelid; first seizures
at the age of 1 year, no motor defect. CT after contrast
enhancement: the irregular, dense, partially calcified an-
gioma covers the whole right cerebral hemisphete, but
seems to leave several areas of normal cerebral cortex;
moderate plexus hypertrophy

Fig. 2.30 a-c. A 4-year-old girl: angioma covering nearly

the whole body, first seizures at 7 days of life, right
hemiplegia noted at 1 year, bilateral pyramidal syn-
drome, severe mental retardation. CT before contrast
enhancement shows marked bilateral cerebral atrophy,
diffuse corticosubcortical calcifications in the two fron-
tal lobes
\l
Nevus Linearis Sebaceus Syndrome
2.4 Incontinentia Pigmenti
Bloch and Sulzberger gave the name of "incon-
tinentia pigmenti" to peculiar flat, pigmented
skin lesions, very numerous but of small size,
which seem to be "splashed" over the normal
skin. The melanocytes appear to be unable to
retain their melanin granules, which lie freely
in the dermis and in the superficial corneal
layers of the epidermis.
The syndrome seems to have a X-linked
dominant trait, with a high incidence of fresh
mutations (2). It appears to be lethal for males;
only observations concerning girls have been de-
scribed.
In fact, the histologic skin lesion that gives
its name to the disease represents a late sequela
of an acute neonatal event. During the first
3 months of life, sometimes even before birth,
eosinophilrich erythematous and bullous lesions
appear oven the trunk and the limbs, rarely the
face (2). They rupture and become hyperkera-
totic. There may be several attacks at intervals
of a few weeks.
Neurologic disturbances, mental retarda-
tion, seizures, and focal spastic or paralytic
signs, are observed in about a third of the cases.
The seizures may be precocious, accompanying
the acute neonatal skin lesions and constitute
partial motor fits resulting from acute ischemic
brain lesions as revealed by CT studies
(Fig. 2.31). In cases without neurologic signs,
CT was normal. Sometimes the epilepsy ap-
pears only at the age of several months or years
and may consist of partial or generalized sei-
zures or even infantile spasms (3). In the only
case studied neuropathologically, there was uni-
lateral ventricular enlargement and necrotic
cavities surrounded by gliosis in the white mat-
ter and microgyria (1).
The ocular manifestations are various and
nonspecific: nystagmus, strabismus, cataract,
optic atrophy, papillitis, retrolental fibroplasia,
and abnormal pigmentation of the retina have
been reported (2).
105
References
1. O'Doherty NJ, Norman RM (1968) Incontinentia
pigmenti (Bloch-Sulzberger syndrome) with cerebral
malformation. Dev Med Child Neurol 10: 168-174
2. O'Doherty NJ (1972) Bloch-Sulzberger syndrome -
Incontinentia pigmenti. In: Vinken PJ, Bruyn ON
(eds). Handbook of clinical neurology, vol 14. North
Holland, Amsterdam, pp 213-222
3. Simonsson H (1972) Incontinenta pigmenti, Bloch-
Sulzberger's syndrome, associated with infantile
spasms. Acta Paediat Scand 61: 612-614
2.5 Nevus Linearis Sebaceus Syndrome
The nevus linearis sebaceus syndrome associates
the congenital nevus of Jadassohn with ophthal-
mologic and neurologic abnormalities (1, 3, 4,
8,9, 10). The nevus is a congenital nonprogres-
sive yellow plaque, sometimes slightly pig-
mented. It is well delineated and has a rough
surface. It can be situated in any part of the
body, but the cranial midline locations - fore-
head, nose, lips, and scalp - are more often asso-
ciated with neurologic manifestations. Histolog-
ically, it consists of hyperkeratosis and hyper-
trophy of the sebaceous glands.
The neurologic signs include essentially par-
tial and generalized seizures appearing during
the first years of life. Infantile spasms and Len-
nox-Gastaut syndrome have been reported (5,
6, 7, 9). Marked mental retardation is observed
in two-thirds of the cases. Hemianopsia, quadri-
paresis, and macrocephaly are less frequent (1,
7, 9). Ocular signs are observed in half the pa-
tients and are various: microphthalmia, col-
oboma, lipodermoids, and abnormal vasculari-
zation of the cornea (10).
Neuroradiologic examinations, especially
CT, may reveal three different types of lesions:
- Asymmetry of the cerebral hemispheres is the
most frequent lesion (6, 7, 9). The larger hem-
isphere presents white matter of abnormally
edematous density and its lateral ventricle is
enlarged. This lesion is referred to as hemime-
galencephaly (1) (see Sects. 1.4, 1.13) and cur-
iously also as cerebral hemiatrophy (7),
though the larger hemisphere is manifestly the
abnormal one.
106 Neurocutaneous Syndromes

Intracranial tumors such as choroid plexus 2.6 Encephalocraniocutaneous

papillomas (7) and astrocytomas (8) have Lipomatosis
been reported in several cases in the literature.
Intracranial vascular abnormalities (2, 7) and
abnormal venous return (3) have been de- Encephalocraniocutaneous lipomatosis asso-
scribed in rare cases. ciates cranial deformation and cutaneous, ocu-
The severity of mental retardation and sei- lar, and neurologic symptoms (Figs. 2.31-2.33).
zures seems to correlate with the existence of The cranium is deformed by unilateral thicken-
lesions of the central nervous system as demon- ing of the parietal vault, covered by an irregular,
strated by CT (9). bold scalp. Soft subcutaneous lipomas, disse-
minated facial papules, and ocular christomas
were observed in the three published cases and
References the one personal case. Early seizures, mental re-
tardation, and focal neurologic disturbances
1. Boltshauser E, Navrati F (1978) Organoide nevus may be considered as a consequence of a hemi-
syndrome in a neonate with hemimacrocephaly. spheric malformation located on the side of the
Neuropaediatrie 9: 195-196 cranial deformation and including microgyria,
2. Campbell WW, Buda FB, Sorensen G (1978) Linear
nevus sebaceous syndrome: neurological aspects
porencephaly, ventricular dilatation, and corti-
documented by brain scans correlated with develop- cal atrophy (2).
mental history in radiographic studies. Military CT may reveal unilateral cerebral atrophy
Medicine 143: 175-179 (3) with communicating porencephaly (1) and
3. Chalhub EG, Volpe J, Gado MH (1975) Linear ne- meningeal and intracerebral calcifications (Fig.
vus sebaceous syndrome associated with porence-
phaly and non-functionning major cerebral sinuses.
2.33).
Neurology 25: 857
4. Choi BH, Kudo M (1981) Abnormal neuronal mi-
gration and gliomatosis cerebri in epidermal nevus References
syndrome. Acta NeuropathoI53:319-325
5. Kurokawa T, Sasaki K, Hanai T et al. (1981) Linear 1. Fishman MA, Chang CS, Miller JE (1978) Encepha-
nevus sebaceus syndrome. Report of a case with locraniocutaneous lipomatosis. Pediatrics 61: 580-
Lennox-Gastaut syndrome following infantile 582
spasms. Arch Neurol 38: 375-377 2. Haberland C, Perou M (1970) Encephalocraniocu-
6. Leonidas JC, Wolpert SM, Feingold M et al. (1979) taneous lipomatosis. Arch N eurol 22: 144
Radiological features of the linear sebaceus syn- 3. Sanchez NP, Rhodes AR, Mandell F et al. (1981)
drome. Am J Roentgenol 132: 277-279 Encephalocraniocutaneous lipomatosis: a new cuta-
7. Levin S, Robinson RO, Aicardi J et al. (1984) Com- neous syndrome. Br J Dermatol 104: 89-96
puted tomography appearances in the linear seba-
ceous naevus syndrome. N euroradiology 26: 469-
472
8. Meyerson LB (1967) Nevus unius lateralis, brain tu-
mor and diencephalic syndrome. Arch Dermatol
95:501-503
9. Vigevano F, Aicardi J, Lini M et al. (1984) La sin-
drome del nevo sebaceo lineare: presentazione di
una casistica multicentrica. Boll Lega It Epil
45/46:59-63
10. Wilkes SR, Campbell J, Waller RR (1981) Ocular
malformations in association with ipsilateral facial
nevus. Am J Ophthalmol 92: 344-352
Encephalocraniocutaneous Lipomatosis
Fig. 2.31 a-f. Girl with three acute episodes of erythema-
tous and bullous skin lesions over the scalp, the trunk,
and the limbs during the first few days and the 2nd
and 6th weeks of life. At the third episode she presents
repeated right clonic seizures. CT after contrast enhance-
ment shows multiple areas of edema-type density in the
Fig. 2.32 a--c. Boy of 4 years: nevus linearis sebaceus
on the nose and the medial forehead, partial motor fits
since the age of 6 weeks, paresis of the right upper limb.
CT after contrast enhancement reveals a dysplastic ap-
pearance of the left cerebral hemisphere, which is larger
107
two frontal lobes and in the left parieto-occipital region
(a, b, c). At 8 months she has a normal neurologic pre-
sentation. CT shows left cerebral hemiatrophy, a small
porencephalic cyst between the right frontal horn and
the interfrontal interhermispheric scissure (d, e, f)
than the right hemisphere. The left lateral ventricle is
enlarged in its frontal and occipital portions, seems com-
pressed in its medial part; the left periventricular white
matter has edema-type density
108
2.7 Hypomelanosis of Ito
(Incontinentia Pigmenti Achromians)
Hypomelanosis of Ito (2) associates hypopig-
men ted skin patches and neurologic manifesta-
tions. More than 40 cases have been reported
(1,4). Hypopigmented skin patches are present
at birth in a third and by the end of the first
year in over two-thirds of the cases. They appear
as small, flat, and well-delimited areas that are
very numerous and grouped in one part of the
body like "splashes" over the skin (4). A de-
crease in the number of dopa-positive cells and
the granules is the main histologic feature. Neu-
rologic manifestations are observed in half the
cases, sometimes with delayed appearance and
of moderate intensity. They consist of mental
retardation, seizures, and EEG abnormalities
(4). Skeletal malformations, present in a third
of the cases, consist of scoliosis, syndactyly, cleft
palate, and skull deformities. Ocular anomalies
include strabismus, nystagmus, retinal pigmen-
tary abnormality, optic atrophy, and micro-
phthalmia.
Neurocutaneous Syndromes
Fig. 2.33 a-d. A 20-year-old patient: bald nevus extend-
ing from the left eyebrow to the vertex, retinal coloboma,
conjunctival fibrolipoma, seizures since the age of 18
months, mental retardation. CT shows marked thicken-
ing of the left frontoparietal vault beneath the nevus,
multiple calcifications in the left temporal and occipital
lobes and the tentorium
CT, performed in two cases (1,3) showed
asymmetrical cerebral atrophy and porence-
phaly.
References
1. David TJ (1981) Hypomelanosis of Ito: a neurocu-
taneous syndrome. Arch Dis Child 56: 798-800
2. Ito M (1952) Studies on melanin XI. Incontinentia
pigrnenti achromians: a singular case of nevus depig-
mentosis systematicus bilateralis. Tohaku J Exp Med
[Suppl] 55: 57-59
3. Shishikura K, Haraguchi M, Honda K et al. (1980)
A case of incontinentia pigmenti achromians with in-
tractable seizures. Brain Dev 12:535-543
4. Schwartz ME, Esterly NB, Fretzin DF et al. (1977)
Hypomelanosis of Ito (incontinentia pigmenti achro-
mians): a neurocutaneous syndrome. J Pediat 90:
236-240
2.8 Neurocutaneous Melanosis
Neurocutaneous melanosis is a rare nonfamilial
disease; less than 50 cases have been reported
since the first publication over 100 years ago
(1). The cutaneous signs consist of one or sever-
Facial Nevi Associated with Anomalous Venous Return and Hydrocephalus
al congenital, giant, pigmented, often hairy nevi
of the" bathing-trunks" or" cape" variety. The
neurologic manifestations result from abnormal
meningeal pigmentation and thickening, most
marked about the basis of the skull, from abnor-
mal pigmentation of various parts of the cere-
bellum, brain stem, and basal nucleus, and
sometimes from malignant melanoma.
The neurologic signs observed in this syn-
drome are, in decreasing order of frequency, sei-
zures, hydrocephalus, generally by blockage of
the basal cisterns, chronic tumoral meningitis,
and cranial nerve palsies.
CT may detect ventricular enlargement, ob-
struction and tumoral opacification of the basal
cisterns, and possibly an intracranial tumor (2,
3).
References
1. Fox H (1972) Neurocutaneous melanosis. In: Vinken
PJ, Bruyn GW (eds) Handbook of clinical Neurolo-
gy, Vol 14. Elsevier North Holland, Amsterdam
pp 414-428
2. Crisp EE, Thompson JA (1981) Primary malignant
melanomatosis of the meninges. Arch Neurol 38:
528-529
3. Flodmark 0, Fitz CR, Harwood-Nash DC et al.
(1979) Neuroradiologic findings in a child with pri-
mary leptomeningeal melanoma. Neuroradiology
18:153-156
2.9 Nevoid Basal Cell Carcinoma
Syndrome
The nevoid basal cell syndrome, or Gorlin's syn-
drome, is an autosomal dominant disease with
marked penetrance and variable expressivity. Its
chief components are multiple nevoid basal cell
carcinomas, odontogenic keratocysts of the
jaws, various skeletal anomalies, a characteristic
facies, and a strong tendency to form various
tumors, especially medulloblastomas (3). The
neoplasms generally appear in late childhood.
The most frequent neurologic symptoms are
mental retardation, epilepsy, congenital or sec-
ondary hydrocephalus, and focal signs revealing
an intracranial neoplasm (1, 4). In the presence
of progressive neurologic deterioration, CT al-
109
lows distinction between the different possible
causes: hydrocephalus, tumors (2).
References
1. Gorlin RJ, Sedano HO (1972) The multiple nevoid
basal cell carcinoma. In: Vinken PJ, Bruyn GW (eds)
Handbook of clinical neurology, vol 14. North HoI-
land, Amsterdam, pp 455-473
2. Hawkins JC, Hoffman HJ, Becker LE (1979) Multi-
ple nevoid basal cell carcinoma syndrome (Gorlin's
syndrome): possible confusion with metastatic me-
dulloblastoma. J Neurosurg 50: 100-102
3. Herzberg JJ, Wiskemann A (1963) Die fiinfte Phako-
matose: Basalzellniivus mit familiiirer Belastung und
Medullablastoma. Dermatologica 126: 106-123
4. Murphy MJ, Tenser RB (1982) Nevoid basal cell car-
cinoma syndrome and epilepsy. Ann Neurol 11:
372-376
2.10 Facial Nevi Associated
with Anomalous Venous Return
and Hydrocephalus
Although the syndrome of "facial nevi asso-
ciated with anomalous venous return and hy-
drocephalus" seems to share the Sturge-Weber
syndrome's embryogenesis, it differs clinically,
since hydrocephalus is the main neurologic sign,
and neither convulsions nor gross neurologic or
mental defects are observed. Three cases have
recently been reported (1, 2); the patients suf-
fered from progressive macro crania resulting
from hydrocephalus and had congenital port-
wine facial nevi reaching the lower part of the
face and the neck, but - in contrast to Sturge-
Weber syndrome - sparing the upper part of
the face. Radiologic examinations showed ab-
normal venous return due to hypoplasia of the
distal part of the lateral sinuses without filling
of the jugular system.
References
1. Orr CS, Osher RH, Savino PJ (1978) The syndrome
of facial nevi, anomalous cerebral venous return and
hydrocephalus. Ann NeuroI3:216-218
2. Shapiro K, Shulman K (1976) Facial nevi associated
with anomalous venous return and hydrocephalus.
J Neurosurg 45: 20-25
3 Inherited Metabolic Diseases
The term" inherited metabolic diseases" desig-
nates a group of inherited diseases where a spe-
cific enzymatic deficit has been identified. How-
ever, though numerous data in this field have
accumulated in recent years (2), there remains
an even larger number of diseases in this group
that also share genetic transmission, progressive
symptomatology, and metabolic abnormalities,
but where the precise enzymatic deficit remains
unknown or is only suspected.
Among the various clinical manifestations
of the inherited metabolic diseases, neurological
problems are frequent (1). Their presentation,
the presence or absence of other visceral mani-
festations, and the age at onset often lead to
a presumptive diagnosis. CT in inherited meta-
bolic diseases may remain normal during the
whole evolution, or only show indirect signs
such as cerebral atrophy, but it often gives a
more precise orientation, as in metachromatic
leukodystrophy, adrenoleukodystrophy, van
Bogaert-Canavan disease, and Alexander's dis-
ease. Appearance of CT abnormalities may be
precocious, as in Alexander's disease and
adrenoleukodystrophy, or more delayed, as in
metachromatic leukodystrophy. In some cases
the clinical presentation and the CT appearance
lead to a nearly certain diagnosis, as in Leigh's
disease and adrenoleukodystrophy. Further-
more, CT allows other diagnostic possibilities
to be ruled out.
In this review the diseases where CT remains
normal or shows only nonspecific lesions will
be mentioned only briefly and we shall concen-
trate on the diseases where specific lesions are
observed.
In nearly one-fourth of our observations of
progressive encephalopathy and CT lesions sug-
gesting a degenerative metabolic disease, no pre-
cise clinical or metabolic classification could be
established. We shall mention certain of these
observations where they might cause problems
in differential diagnosis and to illustrate the no-
sologic limits of this group of diseases.
According to the location of the predominant
lesions, we shall consider successively:
1) The diseases where the basal ganglia are
mainly affected: Huntington's, Wilson's, and
Leigh's diseases.
2) The diseases where the cortical grey mat-
ter is mostly involved, the so-called poliodystro-
phies: including ceroid lipofuscinosis and tri-
chopoliodystrophy or Menkes' disease.
3) The diseases where the essential lesions
are confined to the white matter, the so-called
leukodystrophies: sudanophilic leukodystro-
phies including Cockayne's disease, metachro-
matic leukodystrophy, globoid cellleukodystro-
phy or Krabbe's disease, adrenoleukodystro-
phy, van Bogaert-Canavan disease, Alexander's
disease, Kearne-Sayre disease, and cerebroten-
dinous xanthomatosis.
4) The diseases with neuronal and meningeal
involvement: the different types of mucopoly-
saccharidosis.
5) A disease with lesions essentially limited
to the cerebellum: ataxia-telangiectasia.
Numerous diseases with predominantly neu-
rologic manifestations but with no specific le-
sions on CT (phenylcetonuria, homocystinuria,
Marfan's disease ... ) will not be considered.
References
1. Adams RD, Lyon G (1983) Neurology of hereditary
metabolic diseases of children. McGraw Hill, New
York
2. Stanbury JB, Wyngaarden JB, Frederickson DS
(1978) The metabolic basis of inherited disease.
McGraw Hill, New York
112
3.1 Diseases with Basal Ganglia Lesions
3.1.1 Huntington's Disease
Huntington's disease is a progressive encephalo-
pathy with autosomal dominant transmission.
Penetrance is probably very high, but the dis-
ease may have remained unknown in the af-
fected parent when the first symptoms appear
in the child. In observations with early onset,
the transmitter is often the father. Expressivity
is comparable in the siblings of each family (1).
Forty-six cases with onset before the age of
10 years have been reported in a recent review
of the literature (1).
Symptomatology is dominated by progres-
sive rigidity in over two-thirds of the cases. Chil-
dren are often said to have been stiff and clumsy
since the early years of life. Gait disorder and
falling are often the reason for consultation.
Speech becomes slow, hesitant, and dysarthric.
Mental deterioration and behavior problems are
frequent and may dominate the clinical pattern.
Seizures are frequent, late in the course of the
disease in a fourth of the patients; they may
be tonicoclonic or myoclonic. Chorea is less fre-
quent and rarely predominant.
CT shows dilatation of the frontal horns sec-
ondary to flattening of the caudate nucleus.
Cortical atrophy, frequent in adult cases (2),
does not seem to have been reported in pediatric
cases. CT does not permit early preclinical diag-
nosis in the offspring of an affected adult (2).
References
1. Oepen G, Ostertag C (1981) Diagnostic value of CT
in patients with Huntington's chorea and their off-
spring. J N eurol 225: 189-196
2. Osborne JP, Munson P, Burman D (1972) Hunt-
ington's chorea. Arch Dis Child 57:99-103
3.1.2 Wilson's Disease or Hepatolenticular
Degeneration
Wilson's disease associates brain degeneration,
predominating in the basal ganglia, and cir-
rhosis of the liver. It is transmitted as an autoso-
mal recessive trait, and consanguinity is fre-
Inherited Metabolic Diseases
quent. Accumulation of large amounts of cop-
per in the brain and liver, elevated serum copper
and ceruloplasmin levels, and diminished fecal
copper elimination are the main biochemical
findings, but the primary abnormality remains
unclear (4).
Anatomopathologic findings include nodu-
lar cirrhosis and copper deposition in the pe-
riphery of the cornea. In the brain, the most
striking alterations are found in the basal gan-
glia, especially in patients with early onset of
the symptoms. The basal ganglia have a marked
red pigmentation and show spongy degenera-
tion in the putamen that ultimately leads to the
formation of small cavities. Microscopic exami-
nation reveals neuronal deficit, axonal degener-
ation and presence of a large number of astro-
cytes, including giant Alzheimer's cells. Spongy
degeneration may also be observed in the qortex
of the frontal lobe; it is usually less marked
in the brain stem, the dentate nucleus, and the
substantia nigra (4).
Early symptoms may be jaundice, acute he-
molytic anemia, or portal hypertension, some-
times rapidly fatal before onset of neurologic
manifestations. Kayser-Fleischer's green corne-
al ring may suggest the diagnosis. When neu-
rologic symptoms predominate, the first signs
generally appear during the second decade of
life, rarely as early as 4 years of age. Two main
patterns are seen (4). The term "pseudosclero-
sis" designates the cases with dysarthria, initial-
ly fine and later flapping, wing-beating tremor
with slowly progressive course and asympto-
matic cirrhosis. "Progressive lenticular degener-
ation" designates the case with dystonia, abnor-
mal limb posture, marked tremor, fixed smile
with retraction of the upper lip, speech impair-
ment, and overt hepatic cirrhosis, with alternat-
ing periods of aggravation and improvement.
The latter pattern usually has an earlier onset
than the former. Normal intellect contrasts with
expressionless face. In rare cases, schizophrenia
or hysteria have been described as the only pre-
senting signs (4).
CT abnormalities (1, 2, 3, 5), although more
frequent in patients with neurologic signs, can
be found in those with only hepatic manifesta-
tions and even in presymptomatic patients (5).
Wilson's Disease or Hepatolenticular Degeneration
CT discloses ventricular dilatation predominat-
ing in the frontal horns (73%) (Fig. 3.1); atro-
phy of the cerebral and cerebellar cortex and
of the brain stem is less frequent. Areas of
edema-like density in the region of the basal
ganglia are present in half of the symptomatic
cases (Fig. 3.1, 3.2). The association of areas
of edema-like density in the basal ganglia and
enlargement of the frontal horns is most charac-
teristic of Wilson's disease (2, 3).
Follow-up studies after treatment (D-penicil-
lamine) show conflicting results: in the series
of Williams (5), improvement and even normal-
ization of the basal ganglia lesions is reported
in 11 of 13 treated patients. However, worsening
of the CT lesions has been reported in two cases
with effective cupresis and even in one patient
whose neurologic state had improved (1). The
discrepancy between the two series may result
from differences in the timing of the follow-up
CT scans with regard to the beginning of the
treatment. Aggravation of the CT lesions may
reflect a transitory phenomenon at the onset of
the mobilization of copper.
Fig. 3.1 a, b. A 17-year-old girl: progressive dystonia,
dysarthria, and flapping tremor for 1 to 2 months, ab-
sence of patent hepatic troubles. Corneal Kayser-Flei-
scher ring is evident. Serum copper and ceruloplasmin
levels are clearly elevated. CT shows symmetrical areas
of edema-like density in the region of the lenticular nu-
clei
Fig. 3.2 a, b. Adult patient with advanced Wilson's dis-
ease and severe neurologic troubles. CT shows large ar-
eas of edema-like density covering the region of the basal
ganglia
113
Clinical signs resembling those of Wilson's
disease (areas of edematous density in the region
of the lenticular nuclei and the basal ganglia)
are not necessarily indicative of Wilson's disease
as in two cases of our series showing acute, fe-
brile onset and normal copper metabolism
(Figs. 3.3, 3.4).
References
1. Harik SI, Post JD (1981) Computed tomography in
Wilson's disease. Neurology 31: 107-110
2. Merland 11, Chiras J, Melki JP, Cassan JL (1978)
Etude tomodensitometrique dans la maladie de Wil-
son. J NeuroradioI16:269-270
3. Nelson RF, Guzman DA, Grahovac Z, House DCN
(1979) Computerized cranial tomography in Wilson's
disease. Neurology 29: 866-868
4. Walsh JM (1976) Wilson's disease. In: Vinken PJ,
Bruyn EN (eds) Handbook of clinical neurology,
vol 27. North Holland, Amsterdam, pp 379--414
5. William JB, Walsh JM (1981) An analysis of the cra-
nial computerized appearances found in 60 patients
and the changes in response to treatement with che-
lating agents. Brain 104:735-752
114
Fig. 3.3. A 15-year-old boy with dystonia, abnormal
limb posture, expressionless face, moderate pyramidal
syndrome, horizontal nystagmus, optic atrophy, and
normal intellect. The symptoms appeared at the age of
5 years in a febrile state and slowly progressed. Copper
metabolism is normal. His mother has the same disease,
with onset in a febrile state at the age of 12 years. CT
discloses two small areas of edema-like density in the
region of the lenticular nuclei
3.1.3 Leigh's Disease or Necrotizing
Encephalomyelopathy
Necrotizing encephalomyelopathy is a rare au-
tosomal recessive disease resulting from un-
known metabolic abnormalities probably in-
volving the pyruvate metabolism (1, 4, 9). On
neuropathologic examination, the lesions pre-
dominate in the grey matter of the diencephalon
and the brain stem. They are grossly symmetri-
cal and involve the basal ganglia, the thalamus,
the substantia nigra, and less often the cerebel-
lum and the spinal cord. Marked proliferation
of the small blood vessels and neuronal rarefac-
tion with relative sparing of the neuronal cell
bodies are the most striking features, resembling
the symptoms of Wernicke's disease (1).
Onset is before 2 years of age in two-thirds
of the cases and may even be neonatal (2). The
disease is either insidious with developmental
retardation or more acute with respiratory and
metabolic problems. Additional signs such as
abnormal eye movements, lack of coordination,
corticospinal tract disturbances, dysphagia, hy-
Inherited Metabolic Diseases
Fig. 3.4 a, b. Girl of 4 years: hemiconvulsion-hemiplegia
syndrome in a febrile state with, in the following days,
spasticity and abnormal posture of the limbs with extra-
pyramidal signs, expressionless face, axial hypotonia,
and dysarthria. CT : symmetrical areas of edema-like
density in the area of the basal ganglia
po tonia, seizures, and somnolence may appear
at various stages of the course of the disease.
Infantile spasms have been reported (6) and
were observed in one of our cases. The evolution
may be chronic, subacute with periods of partial
improvement, or acute. Great variations in the
symptomatology and the evolutive appearance
of the disease may be encountered within the
same family (7).
CT at an early stage or an acute period of
the disease may show grossly symmetrical areas
of edema-like density in the region of the basal
ganglia and the adjacent part of the frontal
lobes (Figs. 3.5, 3.6). After contrast enhance-
ment a slight increase in density appears at the
borders of these areas (Fig. 3.5). Later the size
of these edema-like densities diminishes and
their limits become more precise, allowing a
more exact localization of the lesions in the pu-
tamen, the thalamus (3, 5, 8) (Figs. 3.5- 3.9),
rarely in the cerebellum. At a late evolutive
stage, ventricular enlargement and cortical atro-
phy are constantly observed and are marked
(Fig. 3.5).
Leigh's Disease or Necrotizing Encephalomyelopathy
References
1. David RB, Rosenblum NI (1976) Necrotizing ence-
phalomyelopathy (Leigh). In: Vinken PJ, Bruyn GW
(eds) Handbook of clinical neurology, vol 28. North
Holland, Amsterdam, pp 349-363
2. Feigin I, Kim HS (1977) Subacute necrotizing ence-
phalomyelopathy in a neonatal infant. J. Neu-
ropathol Exp Neurol 36: 364-372
3. Hall K, Gardner-Medwin D (1978) CT-Scan appear-
ances in Leigh's disease (subacute necrotizing ence-
phalomyelopathy). Neuroradiology 16:48-50
4. Hansen TL, Christensen E, Brandt NJ (1981) Studies
on pyruvate carboxylase, pyruvate decarboxylase and
lipoamide dehydrogenase in subacute necrotizing en-
cephalomyelopathy. Acta Paediatr Scand 71 :263-267
Fig. 3.5 a-h. Girl presenting clonic palpebral seizures
at 3 months followed later by infantile spasms, progres-
sive mental deterioration, axial hypotonia, and irregular
respiration. Metabolic acidosis with elevated pyruvice-
mia and lactacidemia; hypsarrythmic pattern on EEG.
Rapid aggravation of the neurologic disturbances leads
to a decerebrate state at the age of 7 months. CT at
115
5. Giroud M, Verret S, Fortin G et al. (1982) Interet
de la tomographie axiale dans la maladie de Leigh.
Ann Pediat 29: 438-440
6. Kamoshita S, Mizutani J, Fukuyama Y (1970)
Leigh's suacute necrotizing encephalomyelopathy in
a child with infantile spasms and hypsarythmia. Dev
Med Child NeuroI12:430-435
7. Plaitaki A, Whetsell WO, Cooper JR, Yahr MD
(1980) Chronic Leigh disease: a genetic and biochem-
ical study. Ann Neurol 7:304-310
8. Schwartz WJ, Hutchinson HT, Berg DO (1981) Com-
puterized tomography in subacute necrotizing ence-
phalomyelopathy (Leigh disease). Ann Neurol
10:268-271
9. Sorbi S, Blass JP (1982) Abnormal activation of
pyruvate dehydrogenase in Leigh disease fibroblasts.
Neurology 32: 555-558
3 months before (a, b) and after (c, d) contrast enhance-
ment shows symmetrical areas of edema-like density in
the peduncular, thalamic (a--c) and frontal (d) regions.
Slight opacification around these areas after contrast
enhancement. CT at 7 months shows marked cerebral
atrophy, cavities of CSF density in the striatal regions
(e--h)
116 Inherited Metabolic Diseases

Fig. 3.6 a-f. A 4-year-old girl with mental retardation, of edema-like density in the region of the basal ganglia
microcrania (-3 S.D.), global hypotonia, abnormal eye (a) and in the white matter (b, c). A second CT scan
movements, pyramidal signs. Chronic metabolic acidosis at 4 years (d-I) shows cerebral atrophy and progression
with hyperlactacidemia. CT at 3 years (a--c): small areas of the edematous areas

6.
Fig. 3.7 a--c. An ll-month-old boy with mental retarda-
tion, axial hypotonia, ataxia, and abnormal eye move-
ments. Pyruvicemia and lactacidemia are elevated. CT:
two symmetrical areas of CSF density in the region of
the basal ganglia

<l Fig. 3.8. A 19-month-old boy with mental retardation,

ataxia, bilateral pyramidal signs, abnormal eye move-
ments, and irregular respiration. Pyruvicemia and lacta-
cidemia are elevated. CT: two small areas of edema-like
density in the striatal regions
Alpers' Syndrome
Fig. 3.9 a, b. A 6-month-old boy with infantile spasms,
axial hypotonia, hypertonia of the limbs, and irregular
respiration. A brother had the same symptoms and died
at the age of 6 months. CT : perfectly symmetrical areas
of edema-like density in the striatal and thalamic regions
3.2 Poliodystrophies
3.2.1 Alpers'Syndrome
Since the description by Alpers of a case of" dif-
fuse progressive degeneration of the grey matter
of the cerebrum," several anatomoclinical and
metabolic entities with poliodystrophy have
been recognized. These diseases most often have
an autosomal, recessive transmission. They
share morphological (2) or purely functional (3)
mitochondrial abnormalities. Furthermore,
some show white matter lesions and multisys-
temic abnormalities in the heart, the muscles,
or the liver (5).
At a variable age, after normal development,
the patient progressively suffers from mental re-
tardation, frequent convulsions, often of clonic
or myoclonic type, and eventually epilepsia par-
tialis continua (5), dementia, and pyramidal and
extrapyramidal disturbances. Vomiting and fail-
ure to thrive are common. Progressive microce-
phaly may occur in cases with early onset. The
progression of the disease is often stormy, and
the patient may die in status epilepticus.
Neuropathologic examination reveals a dif-
fuse cortical atrophy that may predominate in
some parts of the brain. The ventricles are wide
and the corpus callosum is thin. The white mat-
ter is thinned, but generally of normal appear-
ance. The basal ganglia may disclose iron-calci-
um deposits (2). The cerebellum may be
atrophic. The major abnormalities, located in
117
the cerebral cortex, consist of severe and wide-
spread neuronal rarefaction, astrocytic prolifer-
ation, and frequently associated spongiosis.
The principal clinical and metabolic entities
descri bed are:
a) Generalized hypotonia from birth on, vomit-
ing, severe lactic acidosis, seizures, episodes
of apnea, and Toni-Debre-Fanconi syn-
drome. Muscular mitochondria are abnor-
mal, and there a deficiency in cytochrome-c-
oxidase (3) .
b) Mental deterioration with onset at 2 months
of age, periods of agitation, hypertonia of
the limbs, opisthotonos, severe microcephaly,
optic atrophy with abnormal eye movements,
and lactacidemia. There is a deficiency in he-
patic pyruvate carboxylase (1, 6).
c) Mental deterioration with onset during the
first months of life, clonic and myoclonic sei-
zures of increasing severity and spasticity.
This syndrome is associated with giant neu-
ronal mitochondria (7).
d) Progressive mental deterioration and seizures
from the end of the first decade of life on.
Blood and CSF lactate levels are elevated,
and muscle mitochondria are abnormal (2).
e) Generalized hypotonia, seizures sometimes
corresponding to epilepsia partialis continua,
hemiplegia, gastrointestinal disturbances,
and clinical signs of hepatic disease appear-
ing between 1 and 3 years of age (4).
f) Recurring acute episodes of seizures, head-
ache, and vomiting with, in the intervals, pro-
118
gressive ataxia, ophthalmoplegia, and re-
duced visual and auditory acuity from lll-
fancy on (4).
In nearly all cases, CT shows diffuse cerebral
atrophy that may predominate in the cortical
regions and be most marked in cases with pro-
longed evolution (Fig. 3.10) or after an acute
episode (3). Asymmetrical lesions and calcifica-
tions in the basal ganglia may be observed (2).
References
1. David M, Baltassat P, Dinjon B et al. (1975) Polio-
dystrophie cerebrale infantile (maladie d'Alpers) chez
un nourrisson avec hyperlactacidemie et anomalie de
la pyruvate carboxylase Mpatique. Arch Franc; Pe-
diatr 32: 580
Inherited Metabolic Diseases
2. Hart ZH, Cang CH, Perrin EUD et al. (1977) Fami-
lial polio dystrophy, mitochondrial myopathy and lac-
tate acidemia. Arch Neuro134:180--185
3. Heiman-Patterson TD, Bonilla E, Di Mauro S et al.
(1982) Cytochrome-c-oxydase in a floppy child. Neu-
rology 32: 898-900
4. Holliday PL, Climie AR, Gilroy Jet al. (1983) Mito-
chondrial myopathy and encephalopathy: 3 cases -,
a deficiency of NAD-CoA dehydrogenase? Neurolo-
gy 33:1619-1622
5. Huttenlocher PR, Solitare GB, Adams G (1976) In-
fantile diffuse cerebral degeneration with hepatic cir-
rhosis. Arch NeuroI33:186-192
6. Prick MJJ, Gabrels FJM, Renier WO et al. (1981)
Progressive infantile poliodystrophy. Association
with disturbed pyruvate oxidation in muscle and
liver. Arch Neurol38: 767-772
7. Sandbank U, Lerman P (1972) Progressive cerebral
poliodystrophy - Alpers' disease. Disorganized giant
neuronal mitochondria on electron microscopy. J
Neurol Neurosurg Psychiatry 35:749-755
Fig. 3.10 a-d. Girl of 3 years: infantile spasms with onset
at 3 months, hypotonia, progressive mental deteriora-
tion, and microcephaly. Her brother had the same neu-
rologic disturbances and died at the age of 20 months.
CT at 1 year (a, b): moderate cerebral atrophy. CT at
3 years (c, d) progression of the atrophy, which is pre-
dominantly cortical (d)
Menkes' Disease or Trichopoliodystrophy
3.2.2 Menkes' Disease or Trichopoliodystrophy
Menkes' (kinky-hair) disease is an X-linked re-
cessive disease caused by abnormal copper me-
tabolism. The frequency is estimated to be
about 1 in 35000. Prenatal diagnosis is possible
(5).
Neuropathologic findings consist of cerebral
atrophy resulting from extensive degeneration
of the cerebral grey matter, tortuous arteries
with split intimal lining, and subdural xantho-
chromic fluid accumulation. After section, nu-
merous cystic lesions may be seen throughout
the white and grey matter. Neuronal loss, glio-
sis, and spongiosis predominate in the cerebel-
lum, thalamus, and cerebral cortex (7).
Low birth weight and prematurity are fre-
quent. Hypotrophy and instability of body tem-
perature worsen progressively during the first
weeks of life. Seizures, hypothermia, drowsi-
ness, variability of muscle tonus, and lack of
spontaneous movements dominate the clinical
symptomatology. The hair, normal at birth, be-
comes twisted (pili torti), depigmented, and
breaks off easily, leaving short stubble giving
the impression of steely hair. Progressive deteri-
oration leads to death by 4 to 6 months of age.
Low serum copper and ceruloplasmin levels and
low urinary copper excretion are diagnostic;
they appear a few weeks after birth. Copper in-
fusion fails to improve the clinical evolution,
though intestinal copper absorption is postu-
lated to be normal.
An X-linked encephalopathy with seizures
and choreoathetosis, low serum copper and cer-
uloplasmin levels, and low intestinal copper ab-
sorption may be related to Menkes' disease (4).
CT was normal in one of these patients.
119
Encephalopathy with kinky hair and no cop-
per metabolism abnormality has been reported
as pseudo-Menkes' disease (2). CT disclosed
slight atrophy in these cases.
Radiologic studies have demonstrated nu-
merous wormian bones, metaphyseal spears,
and subperiostal calcifications of the long
bones. Angiography shows irregular, tortuous,
and sometimes occluded arteries. CT (1, 3, 6)
may be normal at early stages of the disease,
but in later stages appears a rapidly progressive
cerebellar and cerebral atrophy. Focal areas of
edemalike density may represent ischemic le-
sions, zones of cystic degeneration (Fig. 3.11 a-
c). Large subdural collections are common at
a late stage of the disease, often of high density
(Fig. 3.11 d-i) indicating the presence of blood
as subdural taps may show.
References
1. Dobrescu 0, Larbrisseau A, Dube JJ, Weber ML
(1980) Trichopoliodystrophie ou maladie de Menkes.
Can Med Assoc J 123:490-497
2. Dinno ND, Yacoub U, Hommer W et al. (1981)
Pseudo-Menkes syndrome. J Pediatr 99: 325
3. Grover WD, Johnson WC, Henkin RI (1979) Clinical
and biochemical aspects of trichopoliodystrophy.
Ann NeuroI5:65-71
4. Haas RH, Chir B, Robinson A et al. (1981) An x-
linked disease of the nervous system with disordered
copper metabolism and features differing from
Menkes disease. Neurology 31 :852-859
5. Menkes JH (1980) Textbook of child neurology, 2nd
edn. Lea and Febiger, Philadelphia
6. Seay AR, Bray PF, Wing T et al. (1979) CT-Scan
in Menkes disease. Neurology 29: 204--212
7. Vuia 0, Heye D (1974) Neuropathologic aspects in
Menkes' kinky hair disease (trichopoliodystrophy).
Neuropiidiatrie 5: 329-339
120
Fig. 3.11 a-i. A 7-month-old boy: low birth weight, sta-
tus epilepticus at 2 weeks of age, global hypotonia, ab-
sence of spontaneous movements, frequent episodes of
hypothermia. At 3 months the hair is short, depig-
mented, and shows typical kinking. Serum copper and
ceruloplasmin levels are low. Death occurred at the age
of 8 months. CT at 2 weeks: areas of edema-like density
in the two temporoparietal regions sugestive of ischemic
Inherited Metabolic Diseases
lesions (a-c). CT at 3 months: large bilateral subdural
collections, cerebral atrophy: the areas of edematous
density ar no longer detectable (d-t). CT at 7 months:
progression of the cerebral atrophy, which is particularly
marked on the brain stem; destruction of the left cerebel-
lar hemisphere; the density of the left subdural collection
approaches that of the cerebral tissue, suggesting the
presence of blood (g-i)
Ceroid Lipofuscinosis
3.2.3 Ceroid Lipofuscinosis
The term ceroid-lipofuscinosis groups several
genetically independent autosomal recessive dis-
eases associating progressive neurologic deterio-
ration, seizures, and visual troubles resulting
from retinitis pigmentosa as shown by electrore-
tinogram (1). Neuronal inclusions coloring like
ceroids and lipofuscins are best observed on
electron microscopy (2). According to the age
of onset, the clinical symptomatology, and the
type of the inclusions, three principal pediatric
groups can be recognized (6):
1) The Santavuori-Hagberg infantile form
begins at about 1 year of age with mental deteri-
oration and autism, ataxia, visual loss, progres-
sive microcephaly, and myoclonic jerks and
leads to decerebrate posture at 3--4 years. Am-
plitude of EEG activity progressively dimin-
ishes, then vanishes. Neuropathologic examina-
tion reveals cortical atrophy due to the disap-
pearance of the neurons. Neuronal inclusions
are granular. CT discloses marked cerebellar
and cerebral atrophy.
2) The Jansky-Bielchowsky late infantile
form begins between 2 and 5 years of age with
generalized clonic, myoclonic, and atonic sei-
zures. Mental deterioration, cerebellar, pyrami-
dal, and extrapyramidal signs appear progres-
sively, but visual troubles are more delayed. The
basic rhythm of EEG is abnormal, interrupted
by discharges of sharp waves or slow spike
waves; sleep recording is disorganized. Electro-
retinogram activity stays normal initially, then
disappears. On neuropathologic examination,
brain atrophy is less pronounced than in the
first group. Inclusion bodies are curvilinear and
may be associated with fingerprints. CT in five
personal cases was normal in the two patients
in whom it was done in the first year of the
disease. In the three other cases, CT was done
121
in the second year and revealed marked, diffuse
cerebral and cerebellar atrophy (Fig. 3.12).
3) In the Spielmeyer-Vogt juvenile form,
children become blind between 4 and 7 years
of age because of retinitis pigmentosa. Mental
deterioration and extrapyramidal signs appear
gradually. Seizures are rare and delayed. Psy-
chotic incidents with visual hallucinations are
frequent (7). Electroretinographic activity is ab-
sent from the onset. EEG records show wave
and spike complexes in half the cases, but back-
ground activity is always normal (6). On neu-
ropathologic examination brain atrophy is not
very pronounced: CT remains normal until
10 years of age (5).
In 15% of the observations of ceroid lipofus-
cinosis, exact classification into one of the three
groups is impossible even by means of electron
microscopy (3).
References
1. Aicardi 1, Plouin P, Goutieres F (1978) Les ceroi"d-
lipofuscinoses. Rev EEG N europhysiol 8: 149-160
2. Arsenio-Nunes ML, Goutieres F, Aicardi 1 (1981)
An ultramicroscopic study of skin and conjunctival
biopsies in chronic neurological disorders in child-
hood. Ann NeuroI9:163-173
3. Greenwood RS, Nelson IS (1978) Atypical neuronal
ceroid-lipofuscinosis. Neurology 28: 710-717
4. Gutterlidge IMC, Rowley DA, Halliwell B (1982) In-
creased non protein-bound iron and decreased pro-
tection against superoxide radical damage in CSF
from patients with neuronal lipofuscinosis. Lancet
2:459--460
5. Langenstein I, Schwendemann G, Kuhne D et al.
(1981) Neuronallipofuscinosis: CCT findings in four-
teen patients. Acta Paediatr Scand 70: 857-860
6. Pampiglione G, Harden A (1977) So-called neuronal
ceroid-lipofuscinosis. Neurophysiological studies in
60 children. 1 N eurol N eurosurg Psychiatr 40: 323-
330
7. Sorensen JB, Parnas 1 (1979) A clinical study of
44 patients with juvenile amaurotic familial idiocy.
Acta Psychiatr Scand 59: 449-461
122 Inherited Metabolic Diseases

Fig. 3.12 a-d. An 8-year-old son of consanguinous par-

ents (first cousins), showing mental regression with onset
at the age of 4 years. He now presents with microcrania,
pyramidal syndrome, and nearly permanent myoclonias
of the limbs. Fundoscopic examination reveals retinitis
pigmentosa, cutaneous biopsy shows curvilinear inclu-
sion bodies typical of lipofuscinosis. A younger brother
has the same disease. CT: marked cerebellar (a) and
cerebral atrophy with edematous lesions in the temporal
and occipital regions (b, c)

3.3 Infantile Neuroaxonal Dystrophy

Infantile neuroaxonal dystrophy is an autoso-

mal recessive disease (1). The onset, between
6 months and 2 years, is marked by slowing and
then loss of the motor and mental acquisitions,
progressive hypotonia, visual disturbance, pyra-
midal tract signs, and frequently by evidence
of involvement of the anterior horn cells of the
spinal cord. Normal proteinorachia, optic atro-
phy, high-amplitude, nonreactive, fast rhythms
on EEG, and frequently neurophysiologic signs
of anterior horn cell loss are the major laborato-
ry signs. The presence of spheroids on electron
microscopy of conjunctival or skin biopsies is
diagnostic. Unremitting progressive deteriora-
tion leads to decerebration and death.
CT discloses rapidly progressive cerebral
and particularly cerebellar and brain stem atro-
phy (Fig. 3.13).

Reference

1. Aicardi J, Castelein P (1979) Infantile neuroaxonal

dystrophy. Brain 102:727-748 Fig.3.13a-d
 Sudanophilic Leukodystrophy
3.4 Lafora's Disease
Lafora's disease is characterized by generalized
seizures, myoclonias, cerebellar signs, and par-
ticularly visual manifestations, including
amaurosis and hallucinations, of which the ictal
nature has recently been demonstrated (63). On-
set of the clinical signs generally occurs between
6 and 20 years. Transmission of the disease is
autosomal recessive. EEG discloses slowing of
the background activity, diffuse spikes and
waves, and marked photosensitivity (2). Elec-
tron microscopy of skin biopsy shows specific
glycogenic inclusions in the cells of sweat gland
ducts (1). A progressive downhill course with
cachexia leads to death within a few years.
CT remains normal during the first months
of the disease, but shows progressive atrophy
predominating in the occipital regions at later
evolutive stages.
References
1. Carpenter S, Karpati G (1981) Sweat gland duct cells
in Lafora disease: diagnosis by skin biopsy. N eurolo-
gy 31: 1564-1568
2. Tassinari CA, Bureau-Paillas M, DallaBernardina B
et al. (1978) La maladie de Lafora. Rev Electroence-
phalogr Neurophysiol Clin 8: 107-122
3. Tinuper P, Aguglia U, Pelissier JF et al. (1983) Visual
ictal phenomena in a case of Lafora disease proven
by skin biopsy. Epilepsia 24:214-218
~------------------------------------
Fig. 3.13 a-d. A 3-year-old boy. Normal development
in the 1st year: he walks and speaks some words. During
the 2nd year: progressive mental and motor deteriora-
tion. At 3 years: severe mental retardation, marked hy-
potonia, bilateral Babinski and Rossolimo signs, aboli-
tion of tendon reflexes, optic atrophy, normal CSF, ra-
pid rhythms on EEG. Electron microscopy of skin
biopsy reveals spheroids, establishing the diagnosis of
neuroaxonal dystrophy. CT: cerebral atrophy, marked
cerebellar atrophy
123
3.5 Leukodystrophies
The term" leukodystrophy" designates a group
of diseases characterized by progressive destruc-
tion of the myelin of the white matter. Destruc-
tion is due to deficient catabolism of certain
constituents of the complex proteins in the mye-
lin sheaths with accumulation of different catab-
olites in the various diseases of this group. The
onset of clinical signs is progressive; they in-
clude mental retardation and signs of long tract
dysfunction such as pyramidal and cerebellar
disturbances and abnormal conduction of visu-
al, auditory, and somatosensory inputs mea-
sured by the evoked potentials (4).
3.5.1 Sudanophilic Leukodystrophy
Under the denomination "sudanophilic leuko-
dystrophy" are gathered several ill-defined enti-
ties having in common abnormal white matter
with accumulation of sudanophilic droplets
composed of cholesterol and triglycerides.
There is no definite evidence whether these
droplets result from myelin destruction or from
abnormal myelination. Neuropathologic exami-
nation distinguishes between forms with subto-
tal absence of myelin, such as the connatal form
of Pelizaeus-Merzbacher disease, and the forms
with partial lack of myelin, giving a tigroid ap-
pearance, as in the classical form of Pelizaeus-
Merzbacher disease and Cockayne's syndrome
(1).
The classical form of Pelizaeus-Merzbacher
disease has X-linked recessive transmission. On-
set during the first months of life is marked by
wandering eye movements, axial hypotonia,
spasticity of the limbs, progressive microce-
phaly, and hypotrophy. Evoked potentials are
extremely delayed (6); duration of REM sleep
is reduced (5). On neuropathologic examination
the white matter is markedly reduced and cere-
bral atrophy is diffuse. There is patchy absence
of myelin in the centrum semi ova Ie and in the
subcortical U fibers. In the areas without myelin
the axons are preserved though decreased in
number. These lesions are more suggestive of
abnormal myelination than of demyelination
124
(10). CT is normal in childhood, but may show
small areas of periventricular demyelination in
adult patients (5, 9).
The connatal form of Pelizaeus-Merzbacher
disease habitually has X-linked, rarely autoso-
mal recessive, transmission. Neurological signs
begin in the first weeks of life and evolve rapidly
to spasticity and encephalopathy. Neuropatho-
logically, myelin is completely lacking in the
whole central nervous system. Peripheral neu-
ropathy is rarely mentioned (7). CT is normal
(6).
Cockayne's syndrome probably has autoso-
mal recessive transmission. Patients have typical
facies, with large ears, sunken eyes, prominent
nose and prognathism; cyphoscoliosis is fre-
quent. The onset of clinical signs occurs in late
infancy, with failure to thrive leading to severe
dwarfism, lack of subcutaneous fat, progressive
mental deterioration, retinal degeneration, deaf-
ness, gait disorder, and microcephaly. Brain at-
rophy is marked and diffuse on neuropathologic
examination. Small calcifications may be seen
in the basal ganglia and the cerebellar nuclei.
White matter shows patchy areas without mye-
lin (8). CT discloses cerebral atrophy, small cal-
cifications in the basal ganglia, occasionally ar-
eas of edema-like density in the periventricular
white matter (Fig. 3.14).
The Jervis type of sudanophilic leukodystro-
phy has antenatal onset, since microcephaly and
absence of mental development are cong~nital.
Neuropathologic findings include complete lack
of myelin and basal ganglia calcifications (2, 3)
(Figs. 3.15, 3.16).
Inherited Metabolic Diseases
Apart from these four anatomoclinical enti-
ties, precise classification is impossible in most
cases of sudanophilic leukodystrophy.
References
1. Friede RL (1975) Developmental neuropathology.
Springer, New York Wien, pp 449-458
2. Jervis GA (1954) Microcephaly with extensive calci-
um deposits and demyelination. J Neuropathol Exp
NeuroI13:318-329
3. Lyon G, Robain 0, Philipp art M (1968) Leucodys-
trophy avec calcifications strio-cerebelleuses, micro-
cephalie et nanisme. Rev Neurol119: 197-210
4. Markand ON, Gary BP, DeMyer WE et al. (1982)
Brainstem auditory, visual and somatosensory
evoked potentials in leukodytrophies. Electroence-
phalogr Clin Neurophysiol 54: 39-48
5. Niakan A, Belluomini J, Lemmi H et al. (1979) Dis-
turbance of the rapid-eye-movement sleep in
3 brothers with Pelizeaeus-Merzbacher disease. Ann
NeuroI6:253-257
6. Renier WO, Gabreils FJ, Husbinx TW et al. (1981)
Connatal Pelizaeus-Merzbacher disease with con-
genital stridor in 2 maternal cousins. Acta Neu-
ropathol 54: 11-17
7. Rodiere M, Goergescu M, Alric J et al. (1978) Don-
nees de l'EEG et de l'EMG dans les leucodystro-
phies soudanophiles. Rev EEG Neurophysiol
8:167-174
8. Soffer D, Grotsky HW, Rapin I, Suzuki K (1979)
Cockayne syndrome: unusual neuropathological
findings and review of the literature. Ann Neurol
6:340-348
9. Statz A, Boltshauser E, Schinzel A, Spiess H (1981)
Computed tomography in Pelizeaeus-Merzbacher
disease. Neuroradiology 22: 103-105
10. Watanabe I, McCaman R, Dyken P et al. (1969)
Absence of cerebral myelin sheats in a case of pre-
sumed Pelizaeus-Merzbacher disease. J Neuropathol
Exp Neurol 28: 243-246
Fig. 3.14 a, b. Girl of 18 months with severe encephalo-
pathy, cataract, deafness, bilateral pyramidal signs, mi-
crocephaly (-9 S.D.), and hypotrophy. Her features are
suggestive of Cockayne's syndrome. Her parents are first
cousins and her sister died with the same neurologic
disturbances. CT: moderate cerebral atrophy and small
calcifications in the basal ganglia
Krabbe's Disease or Globoid Cell Leukodystrophy 125

L
Fig. 3.15 a--c. Girl of 3 years with encephalopathy of
precocious onset, bilateral pyramidal signs, spasticity of
the limbs, axial hypotonia, abnormal eye movements,
and marked microcephaly. Her 1-year-old brother has
the same neurologic and the same CT lesions. CT:
marked cerebral atrophy with calcifications in the basal
ganglia region

Fig. 3.16 a-d. A 3-year-old boy presenting an encephalo- [>

pathy of neonatal onset with marked microcephaly, di-
plegia, and abnormal eye movements. CT: moderate ce-
rebral atrophy, symmetrical calcifications in the cerebel-
lum and the basal ganglia, and an edematous density
of the white matter of the frontal regions

3.5.2 Krabbe's Disease or Globoid Cell
Leukodystrophy
Globoid cell leukodystrophy results from p-ga-
lactocerebrosidase deficiency and has an au-
tosomal recessive transmission. Prenatal diag-
nosis and detection of healthy carriers are possi-
ble (4).
Onset is early, between 3 and 6 months, or
even neonatal (1). The child begins to cry with-
out any apparent cause and becomes hyper-
sensitive to auditory and tactile stimuli. Feeding
difficulties, psychomotor regression, and con-
vulsions may be the initial symptoms. Rapid,
progressive motor deterioration results in a
thrown-back head with extended hypertonic
legs, flexed arms, dystonic attitudes, diffuse
amyotrophy, and blindness. Tendon reflexes are
either increased or depressed as a result of
mixed pyramidal tract and peripheral nerve ab-
normalities. Patients rarely survive longer than
2 years. Hyperproteinorachia, reduced motor
126
nerve conduction velocity, and decreased activi-
ty of p-galactocerebrosidase in leukocytes are
the most reliable diagnostic clues.
On neuropathologic examination, brain size
is grossly reduced with shrunken gyri and wi-
dened sulci. The white matter is extremely defi-
cient and of firm consistency, especially in the
posterosuperior part of the hemispheres. The
white matter lesions, much more severe than
those of the cortex, consist of marked demyelin-
ation in the posterior part of the centrum semi-
ovale and the cerebellar white matter with dense
fibrous astrocytic proliferation and the presence
of a large number of perivascular multinuc-
leated cells called globoid cells. Fetal studies
have confirmed the prenatal onset of the disease
(3).
Late-onset globoid cell leukodystrophy is a
genetically distinct entity. Visual impairment,
gait disturbance, and spasticity with pyramidal
signs are the main clinical manifestations. CSF
protein and nerve conduction velocity may re-
main normal (2). p-galactosidase deficiency is
the only reliable diagnostic clue.
Inherited Metabolic Diseases
CT may remain normal in the first months
of the disease. Small, grossly symmetrical areas
of edema-like density in the posterior part of
the centrum semiovale, above the lateral ventri-
cles, are generally the first detectable lesions.
Extension of the lesions progresses rapidly an-
teriorly, and at a late stage of the disease the
whole white matter may be involved (Fig. 3.17).
Contrast enhancement does not change the ap-
pearance of the lesions.
References
1. Clarke IT, Qzere RL, Krause VW (1981) Early infan-
tile variant of Krabbe globoid cell leucodystrophy
with long involvement. Arch Dis Child 56: 640-642
2. Farrell DF, Swedberg K (1981) Clinical and biochem-
ical heterogeneity of globoid cell leucodystrophy.
Ann NeuroI10:364-368
3. Martin 11, Leroy lG, Martin L (1981) Fetal Krabbe
leucodystrophy. A morphologic study of 2 cases.
Acta Neuropathol 53: 87-92
4. Suzuki K, Suzuki Y (1978) Galactosylceramide lipi-
dosis: globoid cellieucodystrophy (Krabbe's disease).
In: Stanbury lB, Wyngaarten lB, Frederikson DS
(eds) The metabolic basis of inherited diseases.
McGraw Hill, New York, pp 747-769
Fig.3.17a-f
 Metachromatic Leukodystrophy
3.5.3 Metachromatic Leukodystrophy
The term" metachromatic leukodystrophy" de-
signates several disorders due to deficient activi-
ty of arylsulfatase A (2). Metachromasis of de-
myelinated white matter is secondary to accu-
mulation of sulfatides. The principal forms of
metachromatic leukodystrophy - late infantile
and juvenile - have autosomal recessive, geneti-
cally independent transmission. Prenatal diag-
nosis and recognition of healthy heterozygotes
is possible.
Onset of the late infantile form, usually in
the 2nd or 3rd year, is marked by locomotor
problems with frequent falls resulting from un-
steadiness and weakness of the legs. Reduced
or abolished deep tendon reflexes contrast with
pyramidal signs. Bulbar and pseudobulbar pal-
sies are precocious. Deterioration of speech, in-
tellect, and locomotion, ataxia and hypertonia
of the legs, and optic atrophy increase progres-
sively during the next 3-6 months, leading to
decerebrate, decorticate, and dystonic postures.
Partial motor seizures may appear late in the
evolution. Decreased motor nerve conduction
velocity, hyperproteinorachia, abnormal brain
stem evoked responses (1), urine sulfatide excre-
tion, and leukocyte aryl sulfatase A deficiency
are the most reliable diagnostic clues.
In the juvenile forms, one may distinguish
between the form with early onset, about 4-
6 years, with gait disturbances and behavior
troubles, and the form with later onset, marked
essentially by extrapyramidal signs and behav-
~r---------------------------------------
Fig. 3.17 a-f. An 18-month-old boy whose development
was normal until the age of 3 months when a rapidly
progressive psychomotor regression appeared with sei-
zures, feeding difficulties, dystonic attitude, and blind-
ness. Nerve conduction velocity is reduced, and activity
of p-galactosidase in the leukocytes is decreased. CT at
12 months (a--c) and 18 months (d-I) shows that the
white matter around and particularly above the lateral
ventricles has an edema-like density and that extension
of these lesions has progressed anteriorly on the second
examination
127
ior disturbances (4). Overlapping in the age of
onset, the presentation, and the evolution of the
clinical signs in the different forms - late infan-
tile and juvenile - is frequent (3).
Neuropathologic examination shows severe
demyelination of the white matter leading fo-
cally to cavitation. Destruction of the myelin
sheaths is accompanied by accumulation of me-
tachromatic granules of lipid material rich in
sulfatides.
CT is normal in the early stages of the dis-
ease (4). Areas of edema-like density appear ini-
tially in the frontal white matter and show pos-
terior progression. At late stages, cerebral atro-
phy may be marked (Figs. 3.18-3.20). There is
no modification after contrast enhancement.
References
1. Brown FR, Shimizu H, McDonald JM et al. (1981)
Auditory evoked brainstem response and high perfor-
mance liquid chromatography sulfatide assay as early
indices of metachromatic leucodystrophy. Neurology
31:980--985
2. Dulaney JT, Moser HW (1978) Sulfatide lipidosis:
metachromatic leukodystrophy. In: Stanbury JB,
Wyngaarden JB, Frederickson DS (eds) The metabol-
ic basis of inherited diseases. McGraw Hill, New
York, pp 770--809
3. Haltia T, Palo J, Haltia M, Icen A (1980) Juvenile
metachromatic leucodystrophy (Clinical, biochemical
and neuropathological studies in 9 new cases). Arch
NeuroI37:42-46
4. McFaul R, Cavanagh N, Lake BD et al. (1982) Me-
tachromatic leukodystrophy: review of 38 cases.
Arch Dis Child 57: 168-175

Fig. 3.20 a-c. Girl of 10 years with progressive mental
and motor regression since the age of 3 years. She is
bedridden and presents cerebellar and pyramidal signs
and spasticity of the limbs. Nerve conduction velocity
is clearly reduced. Enzyme dosages and conjunctival
biopsy remain negative. CT shows cerebral atrophy and
an edematous appearance of the white matter in the
<l Fig. 3.18 a-d. Girl of 4 years and 6 months with progres-
sive mental and motor deterioration, spasticity, and dys-
tonia since the age of 4 years. Nerve conduction velocity
is reduced, proteinorachia is at 0.70 gil. Deficit in aryl-
sulfatase A is complete. CT after contrast enhancement:
moderate cerebral atrophy, edematous appearance of
the white matter, especially in the frontal region
Fig. 3.19 a-c. Boy of 2 years and 3 months with progres-
sive ataxia, gait impairment, and bilateral pyramidal
syndrome since the age of 2 years. Mental development
remains intact. Nerve conduction velocity is diminished,
and arylsulfatase A level is clearly decreased. CT dis-
closes an edematous appearance of the white matter ar-
ound the frontal horns and above the lateral ventricles
\l
frontal region. This case may serve to illustrate the fact
that definite classification of neurodegenerative dis-
orders on the basis of clinical and CT data is often haz-
ardous. In about 30% of the cases in our series with
progressive neurologic disturbances and CT lesions sug-
gestive of degenerative disease, exact classification was
impossible
Adrenoleukodystrophy
3.5.4 Adrenoleukodystrophy
Adrenoleukodystrophy is a hereditary, sex-
linked disease (3) associating degenerative le-
sions of the central nervous system and an adre-
nal insufficiency. The onset is usually between
5 and 10 years of age (11). Adrenoleukodystro-
phy has a rather typical clinical presentation,
and may be suspected when the following symp-
toms appear gradually in a boy previously in
perfect health: behavior problems, intellectual
impairment, loss of hearing and visual acuity,
cerebellar ataxia, pyramidal signs, and primary
adrenal insufficiency that may be manifest or
latent. The lamellar cytoplasmic inclusions seen
on electron microscopy of skin, conjunctiva, or
adrenal gland biopsies seem to be specific (1,
7). Recent investigations have shown that the
metabolic defect may involve an enzyme system
responsible for the oxidation of the very long-
chain fatty acids (8), and this anomaly is detect-
able in the plasma and fibroblasts (7), so antena-
tal diagnosis is possible (9).
The pathologic features include widespread
demyelination of the cerebral white matter
(Schaumburg's zone 3) with inflammatory reac-
tion at its periphery (Schaumburg's zones 1 and
2) (3, 10) and atrophy of the zona reticularis
and fasciculata of the adrenal gland with bal-
looned, striated cells in the adrenal cortex (10).
CT lesions of adrenoleukodystrophy are
precocious, appearing in the months following
the apparent onset of the disease (2); they are
usually rather specific (2, 4, 5, 6). There are
grossly symmetrical areas of edema-like density
which surround the ventricular trigones and join
in the splenium of the corpus callosum. After
injection of contrast material, an irregular band
of enhancement appears at the periphery of the
zones of edema-like density (Fig. 3.21). These
dense peripheral bands may correspond to
Schaumburg's zones 1 and 2, representing zones
of active demyelination accompanied by inflam-
matory phenomena. Less typical CT appear-
ances may also be observed, especially at very
129
early or late stages of the disease: the peripheral
contrast enhancement may be lacking, or the
lesions may be predominantly or strictly unilat-
eral (Figs. 3.21, 3.22).
In three of 16 cases in our series, clinical pre-
sentation and CT appearance ofthe lesions were
typical of adrenoleukodystrophy, but there was
no adrenal insufficiency (2). These cases may
correspond to an evolutive or phenotypic vari-
ant of adrenoleukodystrophy.
References
1. Arsenio Nunes ML, Goutieres F, Aicardi J (1981)
An ultramicroscopic study of skin and conjunctival
biopsies in chronic neurological disorder of child-
hood. Ann Neurol 9: 163-173
2. Aubourg P, Diebler C (1982) Adrenoleucodystro-
phy. Its diverse CT appearances and an evolutive
or phenotypic variant: the leucodystrophy without
adrenal insufficieny. Neuroradiology 24: 33--42
3. Blaw ME (1970) Melanodermic type leucodystrophy
(adrenoleucodystrophy). In: Vinken PJ, Bruyn GW
(eds) Handbook of clinical neurology, vol 10. North
Holland, Amsterdam, pp 128-133
4. DiChiro G, Eiben RM, Manz HJ et al. (1980) A
new CT pattern in adrenoleucodystrophy. Radiolo-
gy 137:687-692
5. Duda FF, Huttenlocher PR (1976) Computed to-
mography in adrenoleucodystrophy: correlation of
radiological and histological findings. Radiology
120:349-350
6. Greenberg S, Halverson D, Lane B (1977) CT-scan-
ning and diagnosis of adrenoleucodystrophy. Neu-
rology 27: 884-886
7. Martin 11, Ceuterik C, Libert J (1980) Skin and con-
junctival nerve biopsies in adrenoleucodystrophy
and its variants. Ann NeuroI8:291-295
8. Moser HW, Moser AB, Kawamura N et al. (1980)
Adrenoleucodystrophy: elevated C26 fatty acid in
skin fibroblasts. Ann NeuroI7:542-548
9. Moser HW, Moser AB, Kawamura N et al. (1980)
Adrenoleucodystrophy: delineation of the pheno-
type and implications ofrecent genetic and biochem-
ical studies. Johns Hopkins Med J 147:217-224
to. Schaumburg HH, Powers JM, Raine CS et al. (1975)
Adrenoleucod ystrophy: a clinical and pathological
study of 17 cases. Arch Neurol 32: 577-591
11. Ulrich J (1971) Die zerebralen Entmarkungskrank-
heiten des Kindersalters. Springer, Berlin Heidelberg
New York, p 378
130 Inherited Metabolic Diseases

/',
Fig. 3.21 a-f. A 14-year-old boy with a 7-year history
of progressive mental deterioration, behavior problems,
visual and hearing loss, pyramidal and cerebellar signs,
and latent adrenal insufficiency. CT after contrast en-
hancement is typical of adrenoleukodystrophy: there are
grossly symmetrical areas of edematous density around
the ventricular trigones joining in the posterior part of
the corpus callosum. At the periphery of these edema-
tous areas, dense, irregular bands may correlate to the
active zones (zones 1 and 2 of Schaumburg) with inflam-
matory reactions

<l Fig. 3.22 a-d. A 16-year-old boy with a 2-year history

of isolated behavioral problems. Adrenal insufficiency
is latent. Proteinorachia is 0.6 gil. On CT the lesions
are essentially unilateral with extension into the anteri-
or (b) and posterior (c) parts of the corpus callosum
Alexander's Disease
3.5.5 Cerebrotendinous Xanthomatosis
Cerebrotendinous xanthomatosis is an autoso-
mal recessive lipid storage disease. It appears
in the adolescent and young adult; pediatric
cases are infrequent. The main clinical features
include dementia, pyramidal, cerebellar, and
brain stem disorders, juvenile cataract, xantho-
mas of tendons and other tissues, and occasion-
ally mild peripheral neuropathy. The elevated
cholestanol with normal cholesterol in the plas-
ma and the elevated cholesterol and cholestanol
in brain and xanthomas seem to result from a
block in the bile acid synthesis. Treatment with
chenodesoxycholic acid may improve the neu-
rological condition.
The major pathologic finding consists of dif-
fuse demyelination predominating in the cere-
bellum. More rarely, brain xanthomas may act
as space-occupying lesions.
CT discloses decrease in density of the cere-
bral white matter. A well-delimited area of de-
creased density in one cerebellar hemisphere in
a 13-year-old boy was thought to result from
a xanthoma (1).
Reference
1. Berginer VM, Berginer J, Salen G et al. (1981) Com-
puted tomography in cerebrotendinous xanthomato-
sis. Neurology 31: 1463-1465
3.5.6 Alexander's Disease
Alexander's disease, a rare neurologic disorder,
can be classified into infantile, juvenile, and
adult forms. Although rare familial cases have
been reported, its exact genetic nature remains
131
uncertain. The main clinical manifestations in
the infantile and juvenile forms are slowing of
the mental development, progressive macroce-
phaly, hypotonia, corticospinal tract distur-
bances, and seizures from 6 months of age on
(2, 5, 6). Papilledema is exceptional. CSF and
nerve conduction velocity remain normal.
Definite diagnosis requires cerebral biopsy
showing extensive demyelination and eosino-
philic material deposited in the cortex and
especially in the white matter, the Rosenthal
fibers.
CT in published observations (1, 2,3,4) and
in three personal cases shows that the density
of the white matter is clearly decreased, with
no modification after contrast enhancement.
The lesions are usually extensive, and the lateral
ventricles appear compressed (Figs. 3.23-3.25).
References
1. Boltshauser E, Spiess H, Isler W (1978) Computed
tomography in neurodegenerative disorders in child-
hood. Neuroradiology 16:41-43
2. Cole G, DeVilliers F, Proctor NS et al. (1979) Alex-
ander's disease: case report including histopathologi-
cal and electron microscopic features. J Neurosurg
Neurol Psychiatr 42:619-624
3. Holland JM, Kendall BE (1980) Computed tomogra-
phy in Alexander's disease. Neuroradiology
20: 103-106
4. Nagao H, Kida K, Matsuda H et al. (1981) Alex-
ander's disease: clinical, electrodiagnostic and radio-
graphic studies. Neuropediatrics 12: 22-32
5. Ponsot G, Arthuis M (1979) Les megalencephalies
infantiles progressives. A propos de 3 observations.
Degenerescence spongieuse du nevraxe. Maladie
d'Alexander. Journees Parisiennes de Pediatrie.
Flammarion, Paris, pp 279-283
6. Russo JL, Aron A, Anderson J (1976) Alexander's
disease: a report and reappraisal. Neurology
26:607-614
132
Fig. 3.23 a-d. A 7-month-old boy with progressive
macrocrania (+ 5 S.D.), stagnation of mental develop-
ment, axial hypotonia, right Babinski sign. CSF and
nerve conduction velocity are normal. On CT the
whole white matter has an edematous appearance. The
lateral ventricles are small, as if compressed. Cerebral
biopsy: confirmation of Alexander's disease
Inherited Metabolic Diseases
Fig. 3.24 a-d. A 16-month-old boy with generalized
clonic seizures since the age of 7 months, axial hypo-
tonia, moderate mental retardation, and macrocrania
(+3. S.D.). CSF is normal. CT: diffuse edematous ap-
pearance of the white matter, relative compression of
the lateral ventricles
Fig. 3.25 a-d. A 2-year-old boy presenting severe men-
tal retardation, axial hypotonia, bilateral pyramidal
signs, and seizures. Onset of the neurologic distur-
bances was progressive from the age of 1 year on. CSF
and nerve conduction velocity were normal. CT: ex-
tensive areas of edematous density in the white matter
and the subcortical regions. Clinical signs and CT ap-
pearance of the lesions suggest the diagnosis of Alex-
ander's disease, but histological confirmation by brain
biopsy was refused
Spongy Degeneration of the Cerebral White Matter or van Bogaert-Canavan Disease
3.5.7 Spongy Degeneration of the Cerebral
White Matter or van Bogaert-Canavan Disease
Van Bogaert-Canavan disease is a rare autoso-
mal recessive disease of unknown cause. Mental
deterioration, optic atrophy, abnormal eye
movements, neck hypotonia with opisthotonic
attitude, limb hypertonia, and pyramidal signs
appear between 2 and 4 months of life. Seizures
and choreoathetotic movements may appear
later; head enlargement becomes evident by
6 months. Brain stem auditory evoked poten-
tials are abnormal, due to decreased central con-
duction velocity. CSF is normal.
Definite diagnosis requires brain biopsy that
shows replacement of the white matter by a fine
network of fluid-containing cysts giving the
characteristic spongy appearance (3, 4). The
spongy degeneration is most marked in the sub-
cortical regions, the internal capsule is relatively
spared.
CT appearance varies with the stage of the
disease (1, 2, 6). In the months following the
onset of the disease the white matter takes an
edematous, "swollen" appearance, and the lat-
eral ventricles are small as if compressed. Later,
the lateral ventricles progressively become en-
larged, and the decrease in density of the white
matter continues, with the appearance of small
Fig. 3.26 a-d. Girl of 3 years. Progressive macrocrania
and mental deterioration since the age of 3 months.
Optic atrophy with abnormal eye movements, marked
axial hypotonia, normal CSF. Cerebral biopsy: spongy
degeneration of the white matter. CT: ventricular en-
largement, density of white matter decreased in its to-
tality, delineating clearly the nucleus caudatus (a, b)
and the preserved cortical circumvolutions (c, d)
133
cavities of CSF density. At late stages the ven-
tricular enlargement is marked and the edema-
tous appearance of the white matter may have
disappeared (Fig. 3.26-3.28).
Spongy degeneration of the cerebral white
matter has been observed in several diseases
with a specific metabolic disorder such as non-
ketonic hyperglycinemia or deficiency of 3-hy-
droxy-3-methylglutaryl CoA lyase (5), and it
seems that this condition is a nonspecific re-
sponse to vanous metabolic disorders
(Fig. 3.28).
References
1. Andriola MR (1982) Computed tomography in the
diagnosis of Canavan's disease. Ann Neurol 11 : 323-
324
2. Boltshauser E, Spiess H, Isler W (1978) Computed
tomography in neurodegenerative disorders in child-
hood. Neuroradiology 16:41--43
3. Feigin J et al. (1968) The infantile spongy degenera-
tion. Neurology 18: 153-158
4. Friede RL (1975) Developmental neuropathology.
Springer, New York Wien, pp 478--484
5. Lisson G, Leupold D, Bechinger D, Wallesch C
(1981) CT findings in a case of deficiency of 3-hy-
droxy-3-methylglutaryl CoA lyase. Neuroradiology
22:99-101
6. Rushton AR, Shaywitz BA, Duncan CC et al. (1981)
Computed tomography in the diagnosis of Canavan's
disease. Ann Neurol 10: 57-60
134 Inherited Metabolic Diseases

Fig. 3.27 a-c. Boy of 4 months. Moderate macro- firmation of spongy degeneration of the white matter
crania, optic atrophy, abnormal brain stem auditory was refused. CT: the whole white matter, even in the
evoked potentials, normal CSF. Brain biopsy for con- subcortical region, presents an edema-like density

Fig. 3.28 a-d. Boy presenting neurological troubles

since the neonatal period with drowsiness, axial hypo-
tonia, limb hypertonia, pyramidal signs and irregular
respiration. Macrocrania is noted at 1 month and pro-
gresses rapidly. Laboratory data: optic atrophy, nor-
mal CSF, disturbed brain stem evoked potentials.
There is rapid deterioration of the neurologic condi-
tion and the child dies at the age of 4 months. Neu-
ropathologic examination was refused. A brother pre-
senting the same neurologic disturbances had congeni-
tal deficiency of pyruvate decarboxylase and died at
the age of 3 months. CT at 2 weeks: (a, b) moderate
ventricular enlargement, edematous appearance of the
whole white matter. CT at 3 months: (c, d) the small
cystic cavities in the white matter have progressively
developed into large, grossly symmetrical cysts with
destruction of the adjacent cortex. The same lesions
have been observed in another case of proven defi-
ciency of pyruvate decarboxylase and neurologic dis-
turbances since the neonatal period, illustrating that
spongy degeneration is a nonspecific answer to various
metabolic disorders
Kearns-Sayre Syndrome
3.6 Kearns-Sayre Syndrome
The Kearns-Sayre syndrome is a clinically dis-
tinct multisystem disease (2). Its main clinical
manifestations appear during the second decade
and consist of external ophthalmoplegia, pig-
mentary retinal degeneration, and heart block.
Ataxia, deafness, mild mental impairment, and
hypoparathyroidism may be observed. Elevated
levels of CSF protein seem to be constant.
Mitochondrial abnormalities in various cells
and spongy degeneration of the cerebral, cere-
bellar, and brain stem white matter are the most
constant pathologic findings. Loss of neurons,
gliosis, and siderosis in the substantia nigra, cra-
nial nerve nuclei, and reticular formation have
been reported as the causes of abrupt neurologic
deterioration (1).
CT may disclose areas of edema-like density
in the white matter (4) and the basal ganglia
Fig. 3.29 a-c. A 14-year-old girl with hypoparathyroid-
ism, atrioventricular heart block, partial ophthalmo-
plegia, and diminution of the muscular strength in the
proximal segments of the limbs. She has a short stat-
ure (-3 S.D.) and mild mental retardation. Hyperpro-
135
and scattered hemispheric calcifications
(Fig. 3.29) resulting from hypoparathyroidism
(3) or pseudohypoparathyroidism (4). The asso-
ciation of these two types of abnormalities is
very suggestive of Kearns-Sayre syndrome (4).
Repeated CT scans may show rapid progression
of the white matter lesions (1).
References
1. Coulter DL, Allen RJ (1981) Abrupt neurological de-
terioration in children with Kearns-Sayre syndrome.
Arch NeuroI38:247-250
2. Karpati G (1979) The Kearns-Sayre syndrome. In:
Vinken PJ, Bruyn GW (eds) Handbook of clinical
neurology, vol 38. Elsevier, Amsterdam, pp 221-232
3. Roberton WC, Visaskul C, Lee Ye et al. (1979) Basal
ganglia calcifications in Kearns-Sayre syndrome.
Arch NeuroI36:711-713
4. Siegel RS, Seeger IF, Gabrielson TO, Allen RJ (1979)
Computed tomography in oculocraniosomatic dis-
ease (Kearns-Sayre syndrome). Radiology 130: 159-
164
teinorachia is moderate; skin biopsy reveals abnormal
mitochondria. CT discloses grossly symmetrical areas
of edematous density in the region of the basal ganglia
(a) and multiple calcifications in the white matter
136 Inherited Metabolic Diseases

3.7 Mucopolysaccbaridosis storage bodies in the cortical neurons, the astro-

cytes, and the capillary pericytes (4). In the
white matter the periadventitial spaces are
The group of mucopolysaccharidoses includes greatly dilated and filled with viscous fluid,
several diseases with congenital deficiency of "gargoyle cells," and mesenchymal cells (2, 3).
specific exoglycosidase, preventing normallyso- Pachymeningitis from abnormal deposition of
somal degradation of the mucopolysaccharides. collagen may cause arachnoid cysts - particular-
Classification of the different diseases is bio- ly in the sellar region - and communicating hy-
chemical (detection of the exact enzyme defi- drocephalus. Spinal cord compression may be
ciency) and clinical (from the appearance of the secondary to atlantoaxial subluxation, thoracic
skeletal lesions and the presence of visceral and gibbus formation, and dural thickening (1,5).
neurologic involvement). The main clinical and CT in mucopolysaccharidoses with central
biochemical entities currently isolated (4) are nervous involvement (6) discloses multiple,
shown in the following table: grossly symmetrical areas of edema-like density
in the white matter - particularly in the parietal
Type Eponym Lesions
regions - that may correlate with cavitation and
IH Hurler's disease Skel- Vis- Central with dilatation of the perivascular spaces
etal ceral Nervous (Fig. 3.30). Repeat scans may detect progressive
IS Scheie's disease + + hydrocephalus, a relatively common complica-
I HIS Hurler-Scheide + + + tion in mucopolysaccharidoses I, II, III, and
disease
VII.
II Hunter's disease + + +
III A-D Sanfilippo's A-D +
disease
IV A, B Morquio's disease + References
VI Maroteaux-Lamy + (+)
disease 1. Blaw ME, Langer LO (1969) Spinal cord compression
VII Shy's disease + + + in Morquio-Brailford's disease. J Paediatr 74: 592-
VIII Diferrante's + 600
disease 2. Dekaban AS, Constantopoulos G (1977) Mucopoly-
saccharidoses types I, II, IlIA and IV. Pathological
Genetic transmission is autosomal recessive and biochemical abnormalities in the neural and me-
in all mucopolysaccharidoses except in Hunter's senchymal elements of the brain. Acta Neuropathol
(Berl) 39:1-7
disease, where it is sex-linked recessive. Skeletal 3. Kriel RL, Hauser WA, Sung JH et al. (1978) Neu-
and visceral lesions of varying appearance and roanatomical and electrencephalographic correla-
importance in the different diseases include dy- tions in Sanfilippo syndrome, type A. Arch Neurol
sostosis multiplex with short stature and short 35:838-843
limbs, kyphosis, coarse features, depression and 4. McKusick. VA, Neufeld EF, Kelly TE (1978) The
mucopolysaccharide storage diseases. In: Stanbury
widening of the nasal bridge, hypertrichosis, JB, Wyngaarden JB, Frederickson DS (eds) The met-
thickened skin, corneal clouding, deafness, he- abolic basis of inherited disease, 3rd edn. McGraw-
patosplenomegaly, and umbilical herniation. Hill, New York
The most frequent neurologic problems ob- 5. Sostrin RD, Hasso AN, Peterson DI et al. (1977)
Myelographic features of mucopolysaccharidosis: A
served are mental retardation, hydrocephalus,
new sign. Radiology 125 :421-424
and spinal cord compression. 6. Watts RWE, Spellacy E, Kendall BE et al. (1981)
Neuropathologic examination in the dis- Computed tomography studies on patients with mu-
eases with central nervous involvement shows copolysaccharidoses. Neuroradiology 21: 9-23
Ataxia-Telangiectasia
Fig. 3.30 a-d. A 10-year-old girl with the typical physi-
ognomy of the Hurler phenotype and mental retarda-
tion that has worsened in the last year. CT shows a
large sella turcica (a), large suprasellar cisterns, and
ventricular dilatation. There are small areas of edema-
like density in the parietal and frontal white matter
3.8 Ataxia-Telangiectasia
Ataxia-telangiectasia includes neurologic signs,
oculocutaneous telangiectasia, recurrent respi-
ratory infections, and various immune deficien-
cies possibly related to thymic hormone defi-
ciency (2). It is transmitted as an autosomal re-
cessive trait, and prenatal diagnosis has been
reported in one case (4).
The main pathologic features include cere-
bellar cortical atrophy, involving both Purkinje
and internal granule cells, and demyelination of
the posterior columns and dorsal spinocerebel-
lar tracts. Loss of neurons in the substantia ni-
gra and hemosideric nodules in the pallidum
have been reported (5).
Cerebellar signs appear in infancy, followed
by choreoathetosis and apraxia of eye move-
ments and later by hypotonia, areflexia, and im-
paired intelligence. Dystonia may occasionally
be the first sign, masking ataxia for many
months (1). Telangiectasia appears between 3
and 6 months of age. Recurrent sinopulmonary
infections are frequent. Malignant tumors or
diabetes may appear. Deficiencies of JgA and
137
JgE and of cellular immunity are observed.
However, chromosomal breakage and especially
elevation of a-fetoprotein seem to be the most
reliable biological tests in evaluating clinical
equivocal cases of the disease (3).
CT is usually normal in the first months and
even years of the disease; later, it may show
cerebellar atrophy.
References
1. Bodensteiner JB, Goldblum RM, Goldman AS
(1980) Progressive dystonia masking ataxia in ataxia-
telangiectasia. Arch NeuroI37:464--465
2. Bordigoni P, Faure G, Bene MC et al. (1982) Im-
provement of cellular immunity and IgA production
in immuno deficient children after treatment with
synthetic serum thymic factor (FTS). Lancet
2:293-297
3. Jason JM, Gelfand EW (1979) Diagnostic considera-
tions in ataxia-telangiectasia. Arch Dis Child
54:682-686
4. Shaham M, Voss R, Becker Y et al. (1982) Prenatal
diagnosis of ataxia-telangiectasia. J Pediatr 100: 134-
137
5. Terplan KL, Krauss RF (1969) Histopathologic brain
changes in association with ataxia-telangiectasia.
Neurology 19:446--454
4 Infectious Diseases of the Central Nervous System
Infections of the central nervous system form
a heterogeneous group of diseases. Frequently,
characteristic clinical presentation and biologi-
cal examinations suffice for correct diagnosis
and treatment, as in most cases of meningitis
or perivenous leukoencephalitis. Sometimes,
clinical presentation suggests intracranial infec-
tion and neuroradiologic procedures permit di-
agnosis and treatment, as in intracranial absces-
ses. The results of CT may be helpful because
they are more rapidly available than those of
such biological examinations as Koch bacillus
identification or interferon dosage. Sometimes
CT should have a systematic indication, as in
meningitis in the neonatal period or meningitis
due to "unusual" bacteria. Follow-up CT scans
allow evaluation of therapeutic efficacy and
therefore more flexible treatment, especially in
cerebral abscesses. Frequently, CT yields sup-
plementary information for a more precise
prognosIs.
In this chapter we will deal successively with
bacterial, viral, and parasitic infections that may
be encountered in Europe. We have included
multiple sclerosis because the arguments for a
"slow" virus infection persist. Intracranial my-
cosis, acquired toxoplasmosis, and subacute
measles encephalitis will be discussed in the sec-
tion on iatrogenic diseases in Chap. 8, because
all the cases in our series and most cases in the
literature were observed in patients with ac-
quired immunodeficiency.
Bacterial Infections
4.1 Neonatal Leptomeningitis
The term "neonatal leptomeningitis" is re-
stricted to cases with onset in the first month
of life. Definition of a neonatal form is justified
by the numerous clinical, bacteriologic, and
neuropathologic peculiarities of meningitis in
this age group. Its overall incidence remains
over 0.4% of live births, being higher in prema-
ture babies, after complicated labor or delivery,
and in cases of maternal infection. Enterobac-
teriae are the most frequent germs encountered,
particularly Escherichia coli, Proteus mirabilis,
Klebsiella, and Pseudomonas. Streptococcus B
is second in frequency. Apart from endemic ar-
eas, Listeria is more rarely involved.
Neuropathologic examination at the onset
of the disease shows a purulent exudate covering
the cerebral hemispheres, filling the depths of
the sulci, and lining the leptomeningeal veins.
Inflammation of the choroid plexus (7) resulting
in ventriculitis (10) is particularly frequent in
this age group. The exudate is initially formed
by polymorphonuclear leukocytes that are pro-
gressively replaced by mononuclear cells with
proliferation of fibroblasts and appearance of
strands of collagen at the end of the 2nd week
(5). Dense collagen fibrosis may develop in the
leptomeninges and lead to obstruction of the
basal cisterns and communicating hydrocepha-
lus. Aqueductal obstruction is rarely observed.
Cerebral infarcts were observed in 30% of the
cases in the literature (4) and in nearly 40%
of those in our series. They usually develop dur-
ing the first days of the illness and are secondary
to fibrinous thrombi in the cortical and sub-
ependymal veins (1, 5), rarely in the large veins.
The infarcts are often large, hemorrhagic, and
multiple. They have a random distribution:
periventricular white matter, basal ganglia, cort-
ical regions. Endarteritis with thickening and
leukocytic infiltration of the intima is frequent,
but usually does not lead to the obstruction of
the artery (12). Superinfection of the ischemic
lesions results in abscess formation, particularly
frequent in Proteus and Citrobacter meningitis
(2, 8, 9, 11). Subdural empyema may be ob-
140 Infectious Diseases of the Central Nervous System

served, but is less frequent than in older children Table 4.1. CT findings in neonatal leptomeningitis
(6).
Germ n Hydro- In- Focal infectious
The onset of the disease is most often insidi-
cepha- farcts lesions
ous, occurring in the first 2 weeks of life. The Ius -------
symptomatology is generally nonspecific con- Ab- Ven- Em-
sisting of irritability, drowsiness, anorexia, and scess tricu- pyema
vomiting. Fever is frequent but generally not litis
very marked and transient. This is the reason Escherichia 6 5 3
why diagnosis is often only made after the ap- coli
pearance of neurologic complications such as Proteus 12 9 4 10 8
convulsions, coma, bulging of the fontanelle Klebsiella 1 1
Enterobacter 2 2 1 1
and macrocephaly. Though extensive hemi- Listeria 2 2
spheric lesions are seen on the first CT scan, Streptococcus 11 6 3 3
neurologic examination generally fails to reveal Citrobacter 1 1
focal signs - except in lesions of the posterior Haemophilus 1
fossa - and the only signs are hyper- or hypo- Clostridium 1
perfringens
tonia, a pyramidal syndrome, and vasomotor Pseudomonas 1
disturbances. In spite of efficacious antibiother- Serratia 1
apy, the vital and functional prognosis in neona- Alcaligenes 1 1
tal leptomeningitis remains deceiving: only 20%
of the 40 children of our series displayed normal Total 40 27 15 13 12 3
development at the age of 2 years, nearly 20%
died in the months following diagnosis, and
encephalic cysts was generally remarkably ra-
60% had neurologic sequelae such as mental
pid, taking 2-3 weeks (Figs. 4.1, 4.3, 4.5).
retardation, complex seizures, hemiplegia, diple-
The cerebral abscess formations appeared to
gia, and dystonia (3).
be of hematogenous origin: they developed in
The severity of the disease is better under-
the region of the lateral ventricles into which
stood after repeat CT, which often reveals ex-
they sometimes ruptured secondarily (Fig. 4.10).
tensive lesions not present at the time of the
They presented as a mass of edematous density
first examination. The most frequent anomaly
circled by a dense line after contrast enhance-
observed was ventricular enlargement, generally
ment. Their mass effect was generally less
without macro crania or bulging of the fonta-
marked than their volume would have sug-
nelle. Most often the ventricular dilatation pro-
gested, indicating that the abscess resulted from
gressed and led to hydrocephalus after an evolu-
the superinfection of an infarct (Fig. 4.11). The
tion of 2-3 months, though in some cases it re-
abscesses often were voluminous, cavitating the
mained unchanged for several weeks and dimin-
whole center of a cerebral hemisphere (Fig.
ished afterwards without shunt operation. Ven-
4.11) and multiple (Fig. 4.4); they were particu-
triculitis with a thin line of periventricular con-
larly observed with certain germs: Proteus, Ci-
trast enhancement and edematous appearance
trobaeter, Pseudomonas, Clostridium perfringens,
of the periventricular white matter was observed
and Alcaligenes (Table 4.1).
in 30% of the observations of our series
(Figs. 4.6, 4.10, 4.11).
Infarcts were the most frequent parenchy- References
matous lesions in our series (40%); they had
a random distribution and were often multiple 1. Berman PH, Banker BQ (1966) Neonatal meningitis.
A clinical and pathological study of 29 cases. Pediat-
(Figs. 4.2, 4.5). Contrast enhancement was ex-
rics 38: 6-24
ceptional in the ischemic regions (Fig. 4.5), less 2. Darby CP, Conner E, Kyeng CV (1978) Proteus mir-
pronounced in the periventricular infarcts. abilis brain abscess in a neonate. Dev Med Child
Transformation ofthe ischemic lesions into por- N eurol 20: 366-368
Neonatal Leptomeningitis 141

3. Dulac 0, Diebler C, Figueroa D et al. (1984) La
scannographie dans les meningites purulentes du
nouveau-ne. Nouv Pre sse Med 13:201-204
4. Friede RL (1973) Cerebral infarcts complicating
neonatal meningitis. Acute and residual lesions.
Acta Neuropathol 23: 245-253
5. Friede RL (1975) Developmental neuropathology.
Springer, New York
6. Jacobson PL, Farman TW (1981) Subdural empy-
ema complicating meningitis in infants: improved
diagnosis. Neurology 31: 190-193
7. Lee EL, Robinson MJ, Thong MD et al. (1977) In-
traventricular chemotherapy in neonatal meningitis.
J Pediatr 91 :991-995
8. Levy RL, Saunders RL (1981) Citrobacter meningi-
tis and cerebral abscess in early infancy, cure by
moxalactame. Neurology 31 : 1575-1577
9. Pouplard F, Bouderlique C, Berthelot Jet al. (1980)
Double abces cerebral de la peri ode neonatale. A
propos d'un cas. Pediatrie 35: 619-623
10. Schultz P, Lee NE (1973) Intraventricular septations
complicating neonatal meningitis. J Neurosurg
38:620
11. Smith ML, Mellor D (1980) Proteus mirabilis menin-
gitis and cerebral abscess in the newborn period.
Arch Dis Child 55: 308-309
12. Snyder RD, Storving J, Cushing AH et al. (1981)
Cerebral infarction in childhood bacterial meningi-
tis. J Neurol Neurosurg Psychiat 44:581-585

Fig. 4.1 a-d. Streptococcus B meningitis. Seizures and

somnolence at age 2 weeks, but no focal defect. CT
shows multiple areas of edematous density in both cere-
bral hemispheres (a, b). At 6 months, diffuse atrophy
and multiple porencephalic cysts of both hemispheres,
predominating on the left (c, d)

Fig. 4.2 a-c. Streptococcus

B meningitis with status
epilepticus. Infantile
spasms at 6 months of age.
CT demonstrates multiple
residual porencephalic cysts
and cerebral atrophy
142 Infectious Diseases of the Central Nervous System

Fig. 4.3 a-ci. Streptococcus B meningitis in a premature

infant. Fever and hypotonia at 1 month. CT at 6 weeks
shows ventricular enlargement and bilateral frontal em-
pyemas (a, b). At 18 months, spastic diplegia but no
apparent mental retardation. CT shows atrophy and de-
structive lesions in the two frontal lobes (c, d)

Fig. 4.4 a-f. Proteus mirabilis meningitis in a term infant

with seizures. At age 3 weeks, CT demonstrates multiple
abscesses (a, b). At 6 weeks, after antibiotic therapy only,
the abscesses are well limited around the frontal horns
and the left ventricular trigone (c, d). At age 6 months,
bilateral frontal porencephalies and atrophy (e, 1)

Fig. 4.5 a, b. Proteus mirabilis meningitis in a term neo-

nate, with fever, axial hypertonia, and seizures. CT at
6 weeks, 2 weeks after onset, demonstrates bilateral con-
trast enhancement of the region of the internal capsule
and basal ganglia (a). One month later, bilateral poren-
cephaly of the same areas (b)
Neonatal Leptomeningitis 143

Fig. 4.7 a--d. Klebsiella meningitis. Macrocrania 1 month

after onset. CT shows nearly complete necrosis of the
right hemisphere with growing porencephalic cyst

Fig. 4.6 a-f. Escherichia coli meningitis after shunting

at the age of 3 weeks for posthemorrhagic hydrocephaly.
Bulging fontanelle. CT at 1 month shows constriction
of the lateral ventricles with periventricular opacification
and diffuse edema of the white matter (a, b). At 3
months, evolutive macrocrania with only slight dilata-
tion of the lateral ventricles (c, d). At 9 months, 6 S.D.
macrocrania, no social contact, enlargement of the later-
al ventricles with porencephalic cysts in the white matter
and synechiae (e, f)

Fig. 4.8 a--c. Proteus mira-

bilis meningitis in a term
newborn. CT at 3 months
shows right hemisphere
central porencephaly, with
a small area of contrast en-
hancement in the region of
the right trigone
144
Fig. 4.9 a-d. Clostridium perfringens meningitis. Perma-
nent deviation of the eyes to the right and bilateral pyra-
midal signs. CT at 1 month shows hypo density of the
right basal ganglia with peripheral contrast enhancement
(a, b). Two weeks later, CT shows diminution of the
abscesses but enlarged ventricles, indicating ventricular
shunting (c, d)
Infectious Diseases of the Central Nervous System
Fig. 4.10 a-d. Proteus mirabilis meningitis. CT at 1
month (a, b) demonstrates communicating hydrocepha-
lus with ventriculitis as shown by contrast enhancement
of the ependyma (b) and right frontal abscess apparently
not communicating with the ventricle (b). At 6 months
(c, d), worsening of the hydrocephalus and bilateral fron-
tal porencephalies with ventricular synechiae
Fig. 4.11 a-d. Proteus mirabilis meningitis in a term new-
born. At 1 month progressive macro crania and bulging
fontanelle. CT shows abscess occupying nearly the whole
right hemisphere; ventriculitis is demonstrated by epen-
dymal enhancement (a, b). At 6 months, after shunting,
ventricular enlargement and increasing porencephaly
due to valve obstruction (c, d)
Bacterial Leptomeningitis in Infancy and Childhood
4.2 Bacterial Leptomeningitis
in Infancy and Childhood
The most common infectious agents encoun-
tered in purulent meningitis in infancy and
childhood (neonatal period excepted) are men-
ingococci, Hemophilus injluenzae, and pneumo-
cocci. Meningitis due to staphylococci, salmo-
nellae, and other Enterobacteriae are rarely ob-
served; they generally have a more severe clini-
cal course and are frequently accompanied by
immunodepression, shunt material, or cranial
abnormalities such as epidermoid cysts (2), con-
genital fistula, or fractures of the skull base.
Neuropathologic findings in fatal cases are
in many respects similar to those in the neonatal
period. Thick pus fills the cisterns and covers
the blood vessels. On section, the brain appears
soft, with cortical congestion and white matter
edema. Massive edema with tentorial hernia-
tion, obstruction of CSF flow, and ischemic le-
sions are the main complications. The data
about arterial thrombosis are apparently con-
tradictory: although arterial obstruction is
clearly demonstrated on angiography (5), neu-
ropathology fails to detect thrombosis (1). In-
flammatory infiltrates around the nerve roots
may result in cranial nerve palsies. Brain con-
gestion and inflammatory infiltrates may be
seen in the brain cortex adjacent to purulent
collections and may explain transitory neu-
rologic disturbances.
The clinical presentation varies with the age
of the patient. In the small infant the condition
is often insidious, with gastrointestinal prob-
lems, fever, and drinking difficulties. The classi-
cal symptomatology is seen only in older chil-
dren: fever, headache, apathy, vomiting, and
head stiffness. The main complications are con-
vulsions, rapid alteration of consciousness, focal
neurologic deficits, and secondary hydrocepha-
lus. Seizures may result from various causes:
- They may correspond to febrile seizures.
- Less frequent are seizures secondary to focal
lesions such as transient, edematous, or in-
flammatory focal encephalitis, infarcts, and
intra- or pericerebral purulent collections.
This type of seizure is generally of later onset
in the course of the disease, and the seizures
145
are repeated, prolonged, and sometimes fol-
lowed by a focal motor deficit.
An inappropiate secretion of antidiuretic hor-
mone and brain edema are rare causes of con-
vulsions that are generally precocious, short,
and generalized.
Rapidly progressive deterioration of con-
sciousness with mydriasis and abnormal plantar
reflexes in extension may reveal a rare tentorial
herniation resulting from brain edema (1, 6).
Rapid alteration of consciousness has been seen
more frequently in our series in association with
extensive ischemic lesions in the basal ganglia
region (eight cases) and with acute hydrocepha-
lus, both seen with particular frequency in pneu-
mococcus meningitis.
Focal neurologic deficits may be secondary
to ischemic lesions (5), to focal areas of cerebral
congestion with edematous or inflammatory re-
action (3), or, rarely, to purulent collections.
They may be transient or permanent, depending
on the type of the lesions.
Secondary hydrocephalus is relatively fre-
quent in meningitis due to pneumococci, sta-
phylococci, and Enterobacteriae, but relatively
rare in meningococcal and Hemophilus injluen-
zae meningitis. A particular personal observa-
tion was that of chronic meningococcal menin-
gitis revealed by progressive, isolated macroc-
rania in a 3-month-old boy.
Subarachnoid fluid collections should not be
considered as a complication, since they are of-
ten found on cranial transillumination during
the acute stage and may not be related to any
particular clinical problem (4), except when
clearly asymmetrical (7).
The performance of CT in purulent lepto-
meningitis was motivated in our experience by
various complications: prolonged seizures, al-
teration of consciousness, neurologic deficits,
signs of increased intracranial pressure, macroc-
rania, prolonged persistence of positive CSF
cultures, recurrent meningitis. The true fre-
quency of the lesions observed on CT may
therefore be overestimated.
The lateral ventricles may appear small and
compressed in the early stage of purulent menin-
gitis and enlarge progressively on successive CT
examinations. Enlargement of the arachnoid
 146
space may occur at the acute stage and is gener-
ally not associated with specific neurologic signs
(7). Transient ventricular dilatation usually has
no clinical consequences (8). Marked ventricu-
lar enlargement with edematous appearance of
the periventricular white matter may be preco-
cious, especially in pneumococcal meningitis
(Fig. 4.15), and be accompanied by rapid alter-
ation of consciousness. Secondary hydrocepha-
lus was frequent in pneumococcal, staphylococ-
cal and Enterobacteriae meningitis and relative-
ly rare in meningococcal and Hemophilus in-
jluenzae meningitis.
Ischemic lesions were the most frequent par-
enchymatous lesions observed. Distribution of
the lesions was random, most often suggesting
venous obstruction. CT appearance was that of
edematous areas with blurred limits; contrast
enhancement was observed from the 2nd week
on (Figs. 4.12, 4.13, 4.16). Transient, asymmet-
rical areas of edematous density in the periven-
tricular white matter (Figs. 4.15,4.16) have been
observed in several cases of pneumococcal men-
ingitis with or without ventricular dilatation, of-
ten accompanied by transient neurologic defi-
cits.
Symmetrical infarcts of the basal ganglia
were observed in 6 cases of superacute pneumo-
coccal meningitis, in one on the day after onset
(Figs. 4.15,4.16). In meningococcal meningitis,
large, bilateral infarcts were observed in young
infants with delayed diagnosis, in assoc.iation
with purpura fulminans and collapse.
Follow-up CT in small ischemic lesions
showed that they sometimes apparently van-
ished, but were more often replaced by areas
of focal atrophy. Large infarcts change progres-
sively into porencephalic cysts. Calcifications in
the ischemic territories may appear in the
months following the disease (Fig. 4.17).
Diffuse contrast enhancement in the cortical
region of both frontal lobes was observed in
two patients examined for spastic hemiplegia
several days after the onset of Hemophilus in-
jluenzae meningitis (Fig. 4.14) (3). Outcome was
favorable in both cases, and the lesions had dis-
Infectious Diseases of the Central Nervous System
appeared on a control CT scan. This image may
have been related to cortical congestion or infil-
tration.
Meningeal infiltration and thickening is gen-
erally not detectable on CT, or only at a late
stage of pneumococcal meningitis.
Focal purulent collections are rare in infan-
tile leptomeningitis. Subdural empyemas have
been observed in young infants with Hemophilus
injluenzae, staphylococcal and Enterobacteriae
meningitis, and a cerebral abscess in only one
case of staphylococcal meningitis.
Lesions associated with or directly responsi-
ble for purulent meningitis may be observed on
CT:
- An epidermoid cyst (2) of the posterior fossa
was observed in three cases of repeated men-
ingitis in our series (Figs. 6.29, 6.30).
- Fistula or fractures of the skull basis may be
detected directly or indirectly in the presence
of intracisternal air or the opacity of pneu-
matic cavities. Metrizamide cisternography -
after normalization of the CSF - may help
in their detection.
References
1. Adams RD, Kubic CS, Bonner FI (1948) The clinical
and pathological aspects of influenzal meningitis.
Arch Pediatr 65: 354-376,408-441
2. Bodino J, Lylyc P, Del Valle M et al. (1982) Com-
puted tomography in purulent meningitis. Am J Dis
Child 136:495-501
3. Cockrill HH, Dreisbach J, Lowe B et al. (1978) Com-
puted tomography in leptomeningeal infections. Am
J Roentgenol130: 511-515
4. Feigin RD, Dodge PR (1976) Bacterial meningitis:
new concepts of pathophysiology and neurological
sequelae. Pediatr Clin North Am 23: 541-556
5. Heading DL, Glasgow LA (1977) Occlusion of inter-
nal carotid artery complicating hemophilus influen-
zae meningitis. Am J Dis Child 131: 854-856
6. Horwitz SJ, Boxerbaum B, O'Bell J (1980) Cerebral
herniation in bacterial meningitis in childhood. Ann
Neurol 7: 524-528
7. Naidu S, Glista G, Fine M et al. (1982) Serial CT
scan in hemophilus influenzae meningitis of child-
hood. Dev Med Child Neurol 24: 69-76
8. Snyder RD, Storving J (1978) The follow up CT scan
in childhood meningitis. Neuroradiology 16: 22-23
Bacterial Leptomeningitis in Infancy and Childhood 147

/':,

Fig. 4.12 a--c. A 7-month-old boy with meningococcal

meningitis, seizures and coma. CT on 10th day: multiple
areas of contrast enhancement of both hemispheres, sug-
gesting ischemic lesions

Fig. 4.13 a-d. A l-year-old girl with Hemophilus injZuen- [>

zae meningitis. CT on 15th day: cortical enhancement
of the right posterior hemisphere (a, b). CT 1 month
later without contrast administration shows focal brain
atrophy of the right temporooccipital region (c, d)

Fig. 4.14 a--c. An ll-month-old girl with Hemophilus

injZuenzae meningitis. Bulging fontanelle. Right hemiple-
gia, no seizures. CT shows contrast enhancement of both
frontal cortical areas. No neurologic sequelae 4 years
later
148
Fig. 4.15 a-f. A 9-month-old boy with pneumococcal
meningitis, fever, and unconsciousness leading to coma
within an hour of onset. CT 24 h after onset: edematous
density of the basal ganglia and frontal white matter
suggesting ischemia (a--c). Ten days later: spastic tetra-
Fig. 4.16 a-f. A 9-month-old girl with pneumococcal
meningitis. On the 1st day CT shows edema density of
bilateral frontal white matter and basal ganglia (a--c).
Infectious Diseases of the Central Nervous System
paresis, coma, respiratory failure, and bulging fonta-
nelle; ventricular enlargement predominating in the
frontal horns, contrast enhancement of the basal gan-
glia, and edematous appearance of frontal white matter
(d-f). The child died a few days later
On the 10th day: contrast enhancement of the right tem-
poral and of both frontal lobes (d-f)
Intracranial Tuberculosis
Fig. 4.17 a-c. A 17-month-
old girl 2 months after on-
set of pneumoccoccal men-
ingitis. Persisting coma,
pyramidal signs, and pro-
gressive macrocrania. CT
without contrast adminis-
tration: diffuse enlarge-
ment of the lateral ventri-
cles and sulci, diffuse corti-
cal calcification
4.3 Intracranial Tuberculosis
Although the overall incidence of intracranial
tuberculosis has declined, it remains a common
disease in many parts of the world. Tuberculous
meningitis and tuberculoma are its two most
important manifestations.
Tuberculous meningitis results from hema-
togenous dissemination of bacilli from a prima-
ry tuberculosis lesion, usually a miliary lesion
in the lung. Rubella is a predisposing factor;
children vaccinated against tuberculosis are by
no means fully protected (9). Incidence is high-
est in the first 3 years of life (eight of the
12 cases in our series).
Neuropathologic examination in tubercu-
lous meningitis shows diffuse thickening and in-
filtration of the meninges, with a gelatinous exu-
date filling the basal cisterns and covering the
front of the pons, thus obstructing the circula-
tion of the CSF, with resulting hydrocephalus.
On section, the brain is usually soft, especially
around the lateral ventricles, which are some-
what dilated. Exudates, consisting of lympho-
cytes, plasma cells, and epithelioid cells in a ma-
trix of degenerated fibrin, are often concen-
trated around the meningeal vessels. Inflamma-
tory changes can be seen in the adventitia, me-
dia, and often the intima of the arteries, and
may lead to fibrinoid necrosis with thrombosis
and infarction. The latter predominate in the
basal ganglia. The veins and the outer layers
149
of the cerebral cortex may also be infiltrated
(3).
Prodromal symptoms include apathy, an-
orexia, and headache. Signs of meningitis, such
as fever, neck stiffness, and vomiting, often re-
main discrete for a long time, so that the diagno-
sis is suggested only at an advanced stage when
complications occur: coma, convulsions, cranial
nerve palsies, irregularities of the cardiac and
respiratory rhythms, and cerebral or spinal neu-
rologic deficits. CSF discloses lymphocytosis
and elevated protein levels; the appearance of
hypoglycorachia may be delayed. Isolation of
the bacillus requires prolonged and repeated
bacteriological investigations. The individual
from whom the bacillus was contracted may be
identified in more than 60% of the observations.
The prognosis, in spite of new specific anti-
biotics, remains poor. Most children with tuber-
culous meningitis have permanent neurologic
sequelae: mental retardation, seizures, focal
neurologic deficit, precocious puberty, or hypo-
pituitarism.
On CT, ventricular enlargement is the most
constant finding; it was present in 10 of the
12 cases in our series, but development of active
hydrocephalus was observed in only five cases.
In two cases obstruction of the CSF circulation
was acute, with rapid neurologic deterioration
and coma; shunt operation rapidly improved
the condition of these children.
Infiltration of the basal cisterns is detectable
in the first months of the disease (1, 2, 4, 5).
150 Infectious Diseases of the Central Nervous System

Table 4.2. Findings in 15 cases of intracranial tuberculosis

Case Age Chest film Neurologic symptoms CT

no. (years)
Cisternal Infarct Ventricular Tuber-
infiltration enlargement culoma

Acute stage
1 13 Miliary lesions Increased intracranial pres- +++ +++
(vaccin.) sure, III-VII -VI cranial
nerve palsies
2 6 Normal Increased intracranial +++ ++ +++
(vaccin.) pressure, coma, hemiparesis
3 1 Miliary lesions Coma, convulsions + + +
4 2 Miliary lesions Coma, hemiplegia ++ ++ +
5 3 Normal Seizures, hypotonia + +++
(vaccin.)
6 8 Miliary lesions Coma, cranial nerve palsies, +++ ++
months irregularities of cardiac,
respiratory rhythms
7 2 Miliary lesions Seizures, cranial nerve palsies +++ ++ +
Late stage
8 15 Mental retardation + (calcif.) + + (stabil.) -
9 10 Mental retardation, seizures, ++ +
hemiplegia
10 6 Mental retardation, spasticity, + (calcif.) +++
pyramidal syndrome
11 4 Mental retardation, pyramidal +++
and cerebellar syndromes
12 7 Seizures, precious isosexual + (calcif.) +
puberty

Granuloma
13 Miliary lesions Apathy, anorexia, retinal Multiple
granuloma, normal CSF granulomas

Tuberculoma
14 14 Normal Partial seizures, behavior Temporal
troubles
15 7 Normal Seizures, homonymous hemi- Parieto-
anopsia, increased intracranial occipital
pressure

It was observed in five of the seven cases seen
at the acute stage, and appeared as a dense,
homogeneous mass filling the basal cisterns
without deforming them; extension to the syl-
vi an fissures and the cortical sulci was observed
occasionally on CT examinations with contrast
enhancement (4) (Figs. 4.18, 4.19). Ischemic le-
sions resulting from inflammatory obstruction
of the arteries in the basal region predominate
in the frontal lobes and the region of the basal
ganglia (Fig. 4.19). The arteritic lesions may be
demonstrated directly by angiography (7), and
represent an exceptional cause of moyamoya.
Follow-up CT examinations show that the in-
Intracranial Tuberculosis
tracisternal constrast enhancement vanishes
progressively; intracisternal infiltration persists,
and may calcify in the months or years follow-
ing the meningitis (6) (Fig. 4.20).
Tuberculomas may be located in any part
of the brain. Multiple tuberculomas are fre-
quent; they present as a round, sometimes mul-
tilobar mass with a necrotic center and a dense,
gray capsule. Giant cell nodules and collagen
are observed in the capsule, which is surrounded
by parenchymal edema (3).
Tuberculoma may appear many years after
meningitis, or may represent the apparent first
manifestation of intracranial tuberculosis. It be-
haves like any space-occupying lesion and is re-
vealed by focal neurologic signs, increased intra-
cranial pressure, or epilepsy.
On CT, tuberculomas may mimic any cere-
bral tumor. They may be dense, homogeneous,
round, and well-delimited (8, 10); they may be
partially cystic (10); they may be dense and het-
erogeneous with no precise limits and marked
edema, suggesting a malignant tumor, as in one
of our cases (Fig. 4.21). Calcifications may be
observed. The volume of the tuberculoma di-
minishes after antituberculous therapy (10).
Multiple intracranial tuberculous granulo-
mas were observed in one case of this series
and in two other recent cases. The children were
aged between 1 and 2 years, presented pulmo-
nary miliary lesions, retinal granulomas, and
apathy, but no focal neurologic signs. On CT
with contrast enhancement the granulomas ap-
Fig. 4.18 a-i:. An 8-month-old girl with mild fever, pro-
gressive stupor, irregularities of cardiac and repiratory
rhythms, and partial ophthalmoplegia. Thoracic films
show miliary lesions and CSF lymphocytic meningitis
151
peared as multiple small intracerebral masses
disappearing after several months of antituber-
culous therapy and leaving small calcifications
(Fig. 4.22).
References
1. Arimitsu T, Jabbari B, Buckler RE et al. (1979)
Computed tomography in a verified case of tubercu-
lous meningitis. Neurology 29: 385-386
2. Bachman DS (1980) Computed tomography in a
verified case of tuberculous meningitis. Neurology
30:347
3. Blackwood W, Corsellis J (eds) (1976) Greenfield's
neuropathology, 3rd edn. Edward Arnold, London,
pp 247-252
4. Chu NS (1980) Tuberculous meningitis. Computer-
ized tomographic manifestations. Arch Neurol
37:458-460
5. Enzman DE, Norman D, Mani J et al. (1976) Com-
puted tomography of granulomatous basal arach-
no~ditis. Radiology 20: 341-344
6. Lorber J (1958) Intracranial calcification following
tuberculous meningitis in children. Acta Radiol
50:204-210
7. Mathew NT, Abraham S, Craudy S (1970) Cerebral
angiographic features in tuberculous meningitis.
Neurology 20: 1015-1023
8. Peatfield RC, Shawdon HH (1979) Five cases of
intracranial tuberculoma followed by serial com-
puter tomography. J Neurol Neurosurg Psychiatry
42:373-379
9. Ponsot G, Brette C, Auberge C et al. (1980) La men-
ingite tuberculeuse de I'enfant it I'epoque de l'isonia-
zide. A propos de 32 observations. Rev Pediat
16:95-106
10. Price HI, Danziger A (1978) Computed tomography
in cranial tuberculosis. Am J Roentgenol 130:
769-771
with hypoglycorrachia. CT with contrast enhancement:
moderate ventricular dilatation and dense infiltrates in
the prepontine and optochiasmatic cisterns (a) and be-
hind the left pulvinar (b, c)
152 Infectious Diseases of the Central Nervous System

Fig. 4.19 a--c. A 15-month-old boy with pneumopathy, trates in the cisterns, and ischemic lesions in the region
fever, and seizures foJlowed by coma. CSF: lymphocytic of the left basal ganglia (b, c) (after contrast enhance-
meningitis. CT: ventricular enlargement, dense infil- ment)

Fig. 4.20 a--c. A 15-year-old girl with primary amenor- ment and infiltration of the supraseJlar and optochias-
rhea and visual problems occurring 7 years after tuber- matic cisterns with multiple calcifications
culous meningitis. CT shows slight ventricular enlarge-

Fig. 4.21 a-d. An 8-year-old boy with focal seizures of

recent onset, hemianopsia, and signs of increased intra-
cranial pressure. CT: dense mass with a necrotic center,
surrounded by a large halo of edematous density in the
left internal parietal region. Operation: tuberculoma
Intracranial Suppuration
Fig. 4.22 a-h. A l-year-old boy with fever, miliary le-
sions, and marked apathy. CSF is normal. CT with con-
trast enhancement: multiple small, dense granulomas
4.4 Intracranial Suppuration
Intracranial suppuration may develop in the
brain, the subdural space, or the epidural space.
Location largely depends on the cause of infec-
tion.
Brain abscess may ongInate from the blood
stream or from infection of adjacent structures.
The relatively frequent cerebellar location is pe-
culiar to infancy (8). Hematogenous abscesses
most often develop at the junction of the white
and gray matter and may be multiple. Cyanotic
heart disease is the most frequent cause for he-
matogenous brain abscesses, but abscesses of
this etiology are rarely observed before the age
of 2 years (16). Meningitis represents the most
frequent cause for brain abscesses in the neona-
tal period, but is an exceptional cause in infancy
and childhood. Chronic bronchitis and osteo-
myelitis may be complicated by cerebral absces-
153
surrounded by a thin halo of edematous density (a-d).
Follow-up CT 9 months later shows small residual calci-
fications (e-h)
ses. Acquired and congenital immunodeficiency,
chronic granulomatous disease, and cystic fibro-
sis represent predisposing factors (7). Infections
of the middle ear may cause abscesses in the
temporal lobe or the cerebellum. Infection or
fracture of the frontal, ethmoidal, or sphenoidal
sinuses may lead to abscesses in the frontal lobe.
The most frequent infectious agents encoun-
tered are, in decreasing order of frequency, aer-
obic and anaerobic, streptococci, staphylococci,
Hemophilus injluenzae, Diplococcus pneumoniae,
and various Enterobacteriacae (8).
Abscesses form much more commonly in the
white matter than in the gray matter because
of its poorer vascularization, delaying forma-
tion of a capsule. The first stage in the forma-
tion of the abscess consists in septic encephalitis
with softening and congestion of the brain tissue
and often numerous petechial hemorrhages. The
center of the infected area progressively be-
comes deliquescent and a cavity is formed; its
154
walls, at first poorly defined, gradually become
thicker and firmer. Cerebral edema around the
capsule is often extensive.
Microscopically, the outer layer consists of
thin inflammatory granulation tissue. In more
chronic abscesses, the layer of granulation tissue
is larger and gradually forms a collagenous cap-
sule of variable thickness. The abscess has a ten-
dency to enlarge into the softer and less vascu-
larized white matter and to develop toward the
ventricles, into which it may rupture.
Headache, nausea and vomiting, focal neu-
rologic symptoms or seizures, and evidence of
sepsis, such as fever and leukocytosis, are most
often present. Lumbar puncture may be hazard-
ous when cerebral abscess is suspected, and if
possible, it should be delayed until CT is per-
formed. Purulent meningitis may be observed,
most often aseptic, unless the abscess opens into
the ventricles, but CSF may sometimes remain
normal (12). EEG shows focal polyrhythmic
slowing corresponding closely to the location
of the abscess. Later, the slow activity diffuses
to the whole brain.
Our personal series of 28 cases included
19 boys and 9 girls. A cause was established in
22 cases; the most frequent was cyanotic heart
disease (seven), followed by sinusitis (six), otitis
(six), immunodeficiency (two), and dental ab-
scess (one). In four cases, the abscesses were
multiple in the two cerebral hemispheres and
the cerebellum (Fig. 4.26); in three of these the
etiology was cyanotic heart disease. In the other
cases, the abscesses were isolated or, when mul-
tiple, contiguous in the same cerebral lobe. They
were located in the frontal lobe (20 cases), tem-
poral lobe (eight), parietooccipital region (six)
cerebellum (five), and basal ganglia (two).
In the initial stage of cerebritis, CT discloses
a heterogeneous area of predominantly edema-
tous density with ill-defined limits. After injec-
tion of contrast material, irregular dense zones
may appear; the mass effect is generally
marked. At this stage, surgical treatment is use-
less and may lead to worsening of the mass ef-
fect (17). At a later stage of cerebritis, CT may
show" ring enhancement", which does not nec-
essarily correspond to collection of the abscess
(3, 6). At this stage, medical treatment may pre-
Infectious Diseases of the Central Nervous System
vent evolution to encapsulation, which occurs
within 4-6 weeks. CT then shows a heteroge-
neous area of predominantly edematous density
with ill-defined limits and a clear mass effect.
After administration of contrast material, the
abscess appears as a dense round mass with a
center of edematous density surrounded by an
extensive halo of edema (2, 3, 5, 6, 9, 10, 11,
13, 17, 18). There may be satellite abscesses ap-
pearing as contiguous lesions with ring enhance-
ment with generally thinner walls (Fig. 4.23). In
multiple abscesses, the mass effect of one ab-
scess may be reduced by a contralateral one
(Fig. 4.26). In cerebellar abscesses, dilatation of
the lateral ventricles is precocious (Fig. 4.28).
In cerebellar and temporal abscesses, CT fre-
quently discloses middle-ear opacity.
CT is essential both in diagnosis and in fol-
low-up of treatment of brain abscess. After sur-
gical resection of the abscess, no contrast en-
hancement must persist on follow-up CT. Surgi-
cal treatment has generally become more con-
servative and is currently limited to explorative
puncture of the abscess, diminishing the mass
effect, decreasing the risk of rupture, and allow-
ing isolation of the causative agent. Treatment
has thus become essentially medical with CT
surveillance (4, 13, 14, 18). Follow-up CT may
show residual ring enhancement in the weeks
following the onset of conservative medical
treatment, with or without surgical puncture.
The volume and the mass effect progressively
diminish, but may persist for 2-3 months, ren-
dering it difficult to end treatment (Figs. 4.24,
4.25). In our series, antibiotics were generally
given for 6-8 weeks and then stopped, even in
the presence of persisting ring enhancement. At
a late stage, CT may show a residual porence-
phalic cyst or a focal atrophy area (Fig. 3), but
can frequently be considered normal (Fig. 4.27).
Subdural empyemas are generally secondary to
sinusitis or otitis, more rarely to osteitis. They
are liable to cause phlebitis and thus distant in-
fectious foci. Pus may therefore collect in dis-
tant and widespread pockets, especially along
the tentorium and the falx. Clinical signs are
generally the same as in brain abscess. On CT
without administration of contrast material,
Intracranial Suppuration
subdural empyema presents as an area of ede-
matous density at the periphery of the brain,
contiguous to the vault, the cranial base, or the
dura mater. After contrast enhancement, a
dense line parallel to the vault and dura mater
appears, corresponding to the capsule (15). The
mass effect is generally marked. Follow-up CT
scans have the same indications as in brain ab-
scess (1).
Epidural abscesses are rare in childhood and are
usually secondary to infection of the sinus of
the cranial base, to osteomyelitis, or to trau-
matic lesions, where they result from superinfec-
tion of epidural hematomas (Figs. 4.29, 4.30).
References
1. Bannister G, Williams B, Smith S (1981) Treatment
of subdural empyema. J Neurosurg 55: 82-88
2. Blaquiere RM (1983) The computed tomographic
appearance of intra and extra-cerebral abscesses. Br
J RadioI56:171-181
3. Britt RH, Enzmann DR, Yeager AJ (1981) Neu-
ropathological and CT findings in experimental
brain abscess. J Neurosurg 55: 580-603
4. Calabet A, Guibert-Tranier F, Piton J et al. (1980)
Diagnosis and follow-up of cerebral abscesses by
CT -scanning. J Neuroradiol 7: 57-72
5. Diebler C, Merland n, Grosvalet A et al. (1980)
CT scan contribution to the diagnosis of intracranial
tumors and mass lesions in infancy and childhood.
Prog Pediatr Radiol 7: 1-99
6. Dobkin JF, Healton EB, Dickinson T et al. (1984)
Fig. 4.23 a~. A 7-year-old girl with cyanotic heart dis-
ease, fever (lasting for over 2 months, treated with inade-
quate antibiotics), progressive headache; on day of ad-
mission, seizures, hemiplegia and coma. CT shows dense
155
Nonspecificity of ring enhancement in "medically
cured" brain abscess. Neurology 34:139-144
7. Fischer EG, Schwachman H, Wespic JG (1979)
Brain abscess and cystic fibrosis. J Pediatr
95:385-388
8. Fischer EG, McLennan JE, Suzuki Y (1981) Cere-
bral abscess in children. Am J Dis Child
135:746-749
9. Moussa AH, Dawson BH (1978) Computerized to-
mography and mortality rate in brain abscess. Surg
Neuroll0:301-304
10. New PF, Davis KR, Ballantine HT (1976) CT in
cerebral abscess. Radiology 121: 641-646
11. Nielsen H, Gyldensted C (1977) Computed tomog-
raphy in the diagnosis of cerebral abscess. Neurora-
diology 12: 201-217
12. Ponsot G, De Crepy A, Arthuis M (1978) Les abces
cerebraux sus-tentoriels chez I'enfant. Arch Fr Pe-
diatr 35: 253-261
13. Rosenblum ML, Hoff IT, Norman D et al. (1980)
Non-operative treatment of brain abscesses in se-
lected high-risk patients. J Neurosurg 52: 217-225
14. Rotheram EB, Kessler LA (1979) Use of computed
tomography in non-surgical management of brain
abscess. Arch NeuroI36:25-26
15. Smith HP, Hendrick Eb (1983) Subdural empyema
and epidural abscess in children. J Neurosurg
58:392-397
16. Tyler HR, Clark DB (1957) Cerebro-vascular acci-
dents in patients with congenital heart disease. Arch
Neurol Psychiatr 77: 483--489
17. Weisberg LA (1980) Cerebral computerized tomog-
raphy in intracranial inflammatory disorders. Arch
NeuroI37:137-142
18. Zimmermann RA, Bilaniuk LT, Shipkin PM et al.
(1977) Evolution of cerebral abscess: correlations
of clinical features with computed tomography.
Neurology 27:14-19
parietal abscess with satellite abscess in the frontal region
showing thinner walls, marked mass effect with concavi-
ty of the falx. Patient died in the hours following punc-
ture
156 Infectious Diseases of the Central Nervous System

Fig. 4.24 a-d. A 6-year-old boy with caustic esophagitis,

fever, and headache for over 6 weeks; stupor, hemiple-
gia. CT shows: a, b ill-defined loculated frontal abscess;
c, d 2 weeks later, after puncture and medical treatment,
frontal cavity with thin wall, less marked mass effect

1'::.
Fig. 4.25 a--c. A 13-year-old boy showing progessive he-
miplegia with no apparent etiology. CT shows ring en-
hancement in the right frontal region (a). Three months
after puncture and 1 month after ending of medical
treatment (b), ring enhancement persists, but the size
of the capsule has decreased. 6 months after onset of
treatment (c), there still persists a small round dense
mass

Fig. 4.26 a-d. An ll-year-old boy with cyanotic heart

disease; since 1 month, anorexia, asthenia and loss of
weight, headache, and progressive left hemiparesis. CT
1 month after onset and the day after appearance of
the hemiplegia shows a multiloculated abscess in the
right cerebellar hemisphere, a small abscess in the left
temporal lobe, a large abscess in the right frontoparietal
region, and a small abscess in the left frontal lobe. Treat-
ment was conservative, with puncture of the right frontal
abscess revealing streptococcus. Six months after onset,
clinical condition is satisfactory
Intracranial Suppuration 157

Fig. 4.27 a, b. A 14-year-old boy with a 2-week history

of drowsiness and focal seizures of the right side. CT
shows a small abscess (or subdural empyema) in the
left upper rolandic region (a). Six weeks after onset of
medical treatment, (b) appearance is normal
Fig. 4.28 a, b. A 5-year-old boy with prolonged history
of otitis media, progressive stupor, headache, and vomit-
ing. CT shows large abscess of the left cerebellar hemi-
sphere contiguous to the petrous pyramid; marked dila-
tation of the third and lateral ventricles

Fig. 4.29 a--c. A 9-year-old

boy with sinusitis, head-
ache, and seizures. CT
shows convex frontal epi-
dural empyema crossing
the midline

Fig. 4.30 a--c. A 14-year-old boy with facial trauma: obnubilation. CT shows opacity of the left ethmoid and
fracture of the ethmoid, left orbit, and frontal sinus. exophthalmos (a), epidural hematoma. Surgery showed
One week later, fever, inflammatory exophthalmos, and superinfection of the hematoma
158
Viral Infections and Diseases
of Presumed Viral Origin
4.5 Viral Encephalitis
Encephalitis may result from a great variety of
viruses and represent the consequence of either
the direct viral cytotoxicity or the immunologic
reaction of the host to the virus. Indeed, two
different types of lesions may be found:
1) Some viruses, such as the herpes simplex
virus, are cytotoxic and lead to brain necrosis
with the presence of inclusion bodies. Direct iso-
lation of the virus from the brain is possible.
Other viruses such as the measles virus, are cyto-
toxic only in particular conditions including ei-
ther immunodepression of the host, as in the
subacute encephalitis of leukemic patients, or
abnormal immune response, as in subacute
sclerosing panencephalitis.
Neuropathologic examination shows small
or diffuse areas of necrosis characterized by hy-
perplasia and proliferation of microglia asso-
ciated with neuronophagia and inclusion bod-
Ies.
2) The more frequent viral leukoencephalitis
results from the immunologic response of the
patient. The fact that clinical symptoms usually
appear only some time after the infection, when
viremia is subsiding and antibodies have been
formed, has led to the concept of postinfectious
perivenous enephalitis, also known as acute
leukoencephalitis. Cerebral inflammation and
edema are thought to result from antigen-anti-
body reaction in the walls of the vessels with
perivenous infiltration of round cells. Apart
from exceptional cases, the virus cannot be iso-
lated from brain biopsies. The viruses involved
in this group are the measles, rubella, varicella,
and Epstein-Barr viruses, but most often the vi-
rus remains unknown. Acute encephalomyelitis
after vaccination and Mycoplasma pneumoniae
encephalitis are thought to result from the same
mechanism. The rare acute hemorrhagic leuko-
encephalitis is thought to be a particularly acute
form of leukoencephalitis (3).
On neuropathologic examination the mac-
roscopic appearance of the brain is normal.
Infectious Diseases of the Central Nervous System
Histologic examination reveals infiltrates of in-
flammatory cells, causing perivascular cuffing,
and mononuclear infiltrates in the meninges.
4.5.1 Acute Leukoencephalitis
Leukoencephalitis is the most frequent type of
viral encephalitis encountered in Europe and
America. Cerebral inflammation, thought to re-
sult from antigen-antibody reaction, is located
along the cerebral vessels.
Clinical presentation may be extremely poly-
morphous. In decreasing order of frequency, the
symptoms observed in our series were drowsi-
ness, fever, seizures, pyramidal signs, extrapyra-
midal signs, hemiparesis, ataxia, facial palsy,
nystagmus, akinetic mutism, and cranial nerve
signs. EEG discloses slow waves, and examina-
tion of CSF shows moderate elevation of the
proteins and lymphocytosis. Electrophoresis of
CSF proteins shows no oligoclonal gammaglo-
bulins.
The most frequent virus implicated was
measles (4), followed by rubella, varicella, and
Epstein-Barr virus, but usually the precise etiol-
ogy remained unknown.
The course of the disease may be stormy,
particularly with rubella and Epstein-Barr vi-
ruses, but outcome is usually favorable after 2-
3 weeks. Relapse is exceptional (1). Unfavorable
evolution was observed in about 20% of the
cases of our series and was closely related to
frequent partial complex or motor seizures. In
these cases the children usually had persisting
severe epilepsy, diffuse slowing on EEG, and
behavioral troubles in the months following the
encephalitis. A few children had a progressive
downhill course leading to severe motor and
mental sequelae and eventually to death.
CT usually remained normal during the
whole evolution. The presence of areas of ede-
matous density in the white matter (5)
(Figs. 4.33, 4.34) was uncommon at the acute
stage; outcome was generally favorable in these
cases. Follow-up CT in severe cases with unfa-
vorable outcome showed progressive cerebral
atrophy predominating in the cortical region
(Fig. 4.32) and, exceptionally, diffuse, edema-
tous density of the white matter (Fig. 4.31).
Focal Encephalitis with Epilepsia Partialis Continua
References
1. Alcock NS, Hoffmann HL (1962) Recurrent encepha-
lomyelitis in childhood. Arch Dis Child 37: 40-44
2. Blackwood W, Corsellis JAN (1976) Encephalitis. In:
Greenfield's Neuropathology, 3rd edn. Arnold, Lon-
don, pp 292-326
3. Byers RK (1975) Acute hemorrhagic leukoencephali-
tis: report of three cases and review of the literature.
Pediatrics 56:727-735
4. Miller DL (1964) Frequency of complications of
measles, 1963: report of a national inquiry by the
Public Health Laboratory Service in collaboration
with the Society of Medical Officers of Health. Br
Med J [Clin Res] 2:75-78
5. Saito H, Endo M, Takase S et al. (1980) Acute disse-
minated encephalomyelitis after influenza vaccina-
tion. Arch Neural 37: 564-566
4.5.2 Acute Hemorrhagic Leukoencephalitis
Acute hemorrhagic leukoencephalitis is a rare
hyperacute inflammatory disease of the white
matter leading most often to death in several
days. Coma, seizures, pyramidal signs, and focal
motor defitcits represent the main clinical fea-
tures.
The CT appearance was reported in two
adult cases. On the day following the onset of
the disease, there were large areas of cerebral
edema and intracerebral hemorrhages with a
marked mass effect. Contrast enhancement was
observed at the periphery of the lesions (1, 2).
References
1. Rothenstein TL, Shaw LM (1983) Computerized to-
mography as a diagnostic aid in acute hemorrhagic
leucoencephalitis. Ann Neurol13: 331-333
2. Watson RT, Ballinger WE, Quisling RG (1984) Acute
hemorrhagic leukoencephalitis: diagnosis by com-
puted tomography. Ann NeuroI15:611-612
4.5.3 Brain Stem Encephalitis
The brain stem is an uncommon localization
of encephalitis. The virus involved usually re-
mains unknown. The clinical presentation in-
cludes infectious manifestations such as fever,
increased CSF cell count, and hyperproteinor-
159
achia, and signs of brain stem dysfunction such
as pyramidal, cerebellar, and cranial nerve dis-
orders. Ophthalmoplegia and lethargy are fre-
quent, distinguishing encephalitis from brain
stem tumors, in which these symptoms are un-
common at an early stage (1,3). Auditory brain
stem evoked potentials are delayed (3). The
course of the disease may be stormy (3), but
the outcome is usually favorable within a couple
of weeks.
On neuropathologic examination the brain
stem is usually grossly normal, but occasionally
shows frank swelling. Perivascular cuffing and
small foci of round cells and microglia are ob-
served.
CT is usually normal. Marked swelling,
small areas of edematous density, or opacifica-
tion after contrast administration may lead to
the erroneous diagnosis of brain stem tumor (3).
Herpes virus necrotizing encephalitis of the
brain stem is most exceptional (2, 4).
References
1. Bickerstaff ER, Cloake PCR (1961) Mesencephalitis
and rhombencephalitis. Br Med J [Clin Res] II: 77
2. Fenton TR, Marshall PC, Cavanagh N et al. (1977)
Herpes simplex infection presenting as brainstem en-
cephalitis. Lancet II: 977-978
3. Najim AI-Din A, Anderson M, Bickerstaff ER et al.
(1982) Brainstem encephalitis and the syndrome of
Miller Fisher. Brain 105 :481-495
4. Roman-Campos G, Tore G (1980) Herpetic brain-
stem encephalitis. Neurology 30: 981-985
4.5.4 Focal Encephalitis with Epilepsia
Partialis Continua
Focal encephalitis with epilepsia partialis con-
tinua is a rare clinical entity. It has been re-
ported in previously normal children aged 3-
15 years (1) showing progressive epilepsia par-
tialis continua, hemiparesis, and mental retarda-
tion. Clonic seizures and myoclonias persist
during sleep. On EEG the normal basic rhythm
has disappeared, discharges of rhythmic spikes
lack correlation with seizures. The appearance
of oligoclonal gammaglobulins in the CSF is
delayed (2).
160
Neuropathologic examination (3) discloses
round cell infiltration of the brain, suggesting
an inflammatory cause, although the precise eti-
ology remains unknown.
CT is normal during the first weeks. At later
stages appear areas of focal atrophy with ede-
matous appearance of the brain tissue. These
areas progressively involve the whole brain
(Fig. 4.35).
Fig. 4.31 a-d. An 8-year-old girl with fever, coma, respi-
ratory failure, seizures, pyramidal and extrapyramidal
signs, and lymphocytic meningitis. CT 10 days after on-
set may be considered as normal (a, b). 6 weeks later:
same clinical status, CT shows diffuse edematous ap-
pearance of the white matter (c, d)
Infectious Diseases of the Central Nervous System
References
1. Bancaud J, Bonis A, Talairach Jet al. (1982) Epilep-
sie partielle continue: syndrome ou maladie. Rev
NeuroI138:803-814
2. Dulac 0, Dravet C, Plouin P et al. (1983) Aspects
nosologiques des epilepsies partielles continues chez
I'enfant. Arch Fr Pediatr 40 :689-695
3. Rasmussen T, Olszewski J, Lloyd-Smith D (1958) Fo-
cal seizures due to chronic localized encephalitis.
Neurology 8: 435-445
Fig. 4.32 a, b. A 6-year-old boy presenting 6 months
after acute measles encephalitis with tetraparesis, pyra-
midal and extrapyramidal signs, choreic movements, and
massive myoclonias. CT: marked cerebral atrophy, ede-
matous appearance of the white matter
Fig. 4.33 a-f. A 3-year-old girl with isolated progressiv~
right dystonia for 1 month, no fever. CSF shows 30
lymphocytes/mm 3 • CT shows areas of edematous den-
sity in the right cerebellar hemisphere (a), the left tha-
lamic region (b) and the two parietal regions (c). Two
weeks later the neurologic examination and the CT are
normal (d-f)

Fig. 4.34 a-f. A 10-year-old boy with fever, coma, bilat-I>

eral pyramidal signs, left mydriasis, and bilateral papille-
dema. Secondary finding of mycoplasma antibodies in
the serum. CT 2 days after onset shows areas of edema-
tous density in the region of the basal ganglia and in
the frontoparietal white matter, and ventricular enlarge-
ment (a-d). Three weeks later: normal neurologic status,
regression of the edematous areas and of ventricular en-
largement on CT (e, f)
162
Fig. 4.35 a-f. A previously normal 5-year-old girl devel-
oping epilepsia partialis continua of the right hemibody
with progressive hemiplegia. CT 1 month after onset
shows bilateral areas of edematous density in the fronto-
parietal white matter (a-c). One year later the patient
4.5.5 Herpes Simplex Virus Encephalitis
Herpes simplex virus is responsible for the most
frequent acute necrotizing viral encephaljtis in
Europe. Two antigenically distinct types have
been related to grossly different, though slightly
overlapping, clinical entities:
- Type I generates stomatitis and primitive en-
cephalitis in children, probably via olfactory
mucosa.
- Type II generates adult genital infection, feto-
pathy and newborn encephalitis (3, 13).
The recent introduction of antiviral drugs
(14) makes necessary early diagnosis and precise
evaluation of prognosis. Diagnosis is based on
virus isolation from skin lesions or CSF, often
possible in the neonatal period. In older pa-
tients, brain biopsy is the only early and specific
method; since it may remain negative and can-
not be indicated in all cases of acute encephali-
tis, measurement of intrathecal interferon secre-
Infectious Diseases of the Central Nervous System
presents nearly complete right hemiplegia and speech
disorders. CT shows cerebral atrophy predominating on
the left side and bilateral areas of edematous density
in the white matter (d-f)
tion, though not absolutely specific, has been
proposed (12). Intrathecal herpes virus antibody
production occurs too late to be of use in thera-
peutic decision-making.
Fetopathy is usually responsible for microce-
phaly, mental retardation, focal neurologic defi-
cit, microphthalmia, cataract, and chorioretini-
tis. Neuropathologic examination shows diffuse
mononuclear infiltrates in the brain with foci
of calcification predominating in the temporal
lobes (3). CT discloses brain atrophy with ven-
tricular enlargement and intracerebral calcifica-
tions (4) (Fig. 4.36).
Neonatal infection may result in visceral, cutane-
ous, and encephalitic manifestations which may
occur together or stay isolated.
Poor feeding, apnea, acidosis, jaundice, he-
patomegaly, lethargy, and seizures are the main
features of disseminated herpes simplex virus in-
fection. They appear in the first week and lead
Herpes Simplex Virus Encephalitis
to death within a week in most cases. SGOT
is increased; CSF may remain normal.
The main symptoms of herpes simplex virus
encephalitis in the first weeks of life are fever,
irritability, lethargy, and seizures. A mild lym-
phocytosis of less than 300 cells/mm 3 with mod-
erate hyperproteinorachia is observed within
3 days after onset. EEG discloses slow and low-
voltage background activity with either periodic
slow wave complexes or multiple spike foci. Vi-
tal and functional prognosis remains poor.
The mucocutaneous lesions in this age range
are typical vesicles but may be absent in up to
60% of the cases (1). In about 30% of the cases
with apparently isolated skin lesions, associated
encephalitis lacks clinical expression (13) and
neurologic disturbances such as focal deficits,
seizures, mental retardation, and chorioretinitis
may first be observed months or years later.
A history of vesicular cutaneous lesions or chor-
ioretinitis allows retrospective diagnosis.
CT in neonatal herpes encephalitis may re-
main normal during the first few days. A normal
CT scan has no prognostic value (1). Most often
CT shows areas of edematous density that are
most typically located in the temporal lobes, but
may affect a frontal or a parietal lobe or even
an entire cerebral hemisphere. Hemorrhagic
spots within the edematous areas are rare. Con-
trast enhancement may be intense and pro-
longed (8). Ventricular compression may be ob-
served in the first weeks. Evolution of the ede-
matous areas to porencephalic cysts or to areas
of focal atrophy is remarkably rapid. The le-
sions generally appear more widespread and
more severe on follow-up CT scans. The appear-
ance of small calcifications within the cerebral
tissue in the months following the acute stage
is rather typical of herpes encephalitis.
Infantile and adult herpes simplex virus encepha-
litis: Herpes virus encephalitis may appear at
all ages, but presents a peak of frequency in
the 2nd year of life.
Fever, vomiting, and headache are the earli-
est clinical signs. Partial clonic seizures appear
1-10 days after onset. They are limited to one
upper limb and the face. They are usually brief
and repeated over a period of days. Movements
163
of mastication are frequent. Motor defects ap-
pear progressively in the same muscle groups
a few hours or days after the first fits. Alteration
of consciousness is rapidly progressive. EEG
demonstrates asymmetrical slowing of the basal
activity. Typical periodic complexes may be ob-
served as early as the 2nd day of the disease,
but may be delayed until the end of the 1st week.
The CSF is sometimes hemorrhagic. It usually
shows mild pleiocytosis and transudative pro-
tein elevation. A nearly normal CSF during the
first days of the disease does not rule out the
diagnosis of herpes encephalitis and indicates
repeated examinations. Intrathecal interferon
concentration is often high during the first days
of the disease (12), as it was the case in 12 of
our patients. CSF antibody production is de-
layed from a week to a month after onset and
persists up to 3 years later (11).
On neuropathologic examination, wide-
spread and asymmetrical necrosis, particularly
in the temporal lobes and the orbital cortex,
is highly characteristic. The hippocampus, the
amygdaloid nucleus, the inferior part of the pu-
tamen, and the adjacent white matter are the
most frequently involved sites, but the insula
and the inferior surface of the frontal lobe may
also be affected. The necrotic tissue is sometimes
hemorrhagic and may expand, compressing ad-
jacent structures. Rarefaction necrosis and in-
flammatory reaction culminate in tissue necro-
sis. During the 2nd and 3rd weeks, the dead
tissue becomes soft and starts to disintegrate.
Persistent inflammatory infiltration and areas
of rarefaction necrosis at this stage suggest that
the virus is still spreading into adjacent parts
of the brain. Finally, the affected tissue becomes
shrunken and cystic. Diffuse meningoencephali-
tis and intranuclear inclusion bodies may be ob-
served.
CT (4, 5, 6, 9) (Table 4.3) may remain nor-
mal during the first days of the disease (2, 7).
This bears no prognostic significance. Most
characteristic are areas of edematous density
predominating in the temporal lobes, but possi-
bly extending to the frontal, parietal and even
occipital lobes, sometimes bilaterally
(Figs. 4.37-4.43). Isolated occipital or parietal
lesions (2) are rare. Small hemorrhagic spots
164 Infectious Diseases of the Central Nervous System

Table 4.3. Clinical and neuroradiologic correlations in herpes simplex virus encephalitis

Case Age Clinical manifestations CSF Interval CT lesions (lobe)

between
onset Frontal Temporal Parietal Occi-
andCT pital

1 3w Unilateral seizures, fever, cutaneous Prot. 2d + +

vesicles. Outcome: died at 1 week lymph.
inter.
2 2d Seizures, hemiparesis, chorioretinitis, 5m ++
cutaneous vesicles. Outcome: encephalo- Normal calc.
pathy, hemiplegia at 5 months
3 9d Cutaneous vesicles. Outcome: encephalo- Normal 5m + + +
pathy, hemiplegia at 5 months calc.
4 6w Unilateral seizures. Outcome: encephalo- Prot. 20 d + +
pathy, hemiplegia at 1 year lymph. 2m + + + +
inter. 14m + + calc. + +
5 3w Unilateral seizures, drowsiness. Prot. 7d ++ ++ ++ ++
Outcome: encephalopathy, extrapyrami- lymph. 3d ++ ++ ++ ++
dal syndrome inter.
6 lw Drowsiness, seizures. Outcome: ence- Normal 5m ++ + + calc. ++ ++
phalopathy
7 16m Fever, seizures, coma. Outcome: died Lymph. 2d
at 1 month inter.
8 6m Fever, unilateral seizures, hemiplegia. Prot. 9d ++ + + +
Outcome: died at 10 days lymph.
inter.
9 6m Drowsiness, seizures. Outcome: normal Prot. 2d ++ hem.
at 1 year lymph. 1m ++
10 8m Fever, unilateral seizures, hemiplegia. Lymph. 4d + ++ hem. + +
Outcome: slight mental retardation, inter. 14 d + ++ + +
hemiplegia at 1 year 6m + ++ + +
Prot., elevated proteinorachia; lymph., lymphocytosis; inter., interferon; calc., calcification; hem, hematoma; dem,
demyelination

within the areas of edematous density are fre-
quent (Figs. 3, 4). Contrast enhancement is en-
countered in the first 2 months. Ventricular
compression or even a shift of the midline struc-
tures may be observed at the acute stage
(Figs. 4.39, 4.41).
Repeated examinations during the acute
stage disclose progressive extension of the ede-
matous areas in the weeks following onset (11).
In rare cases, extension of the edematous areas
may persist over 4 months after onset, suggest-
ing persistent necrosis of the brain. Demyelina-
tion secondary to treated primitive herpes ence-
phalitis was observed in one case in the litera-
ture (10) and possibly in one case in our series
(Fig. 4.43). Stabilization of the lesions was usu-
ally observed in the 2 months following onset,
except in the case with progressive demyelina-
tion.
The diagnostic value of CT in herpes ence-
phalitis is twofold:
Typical images of herpes encephalitis were of-
ten obtained before the results of CSF inter-
feron measurement were available.
These images persist. when CSF interferon is
no longer elevated and before specific anti-
bodies are produced intrathecally.
Herpes Simplex Virus Encephalitis 165

Table 4.3 (continued)

Case Age Clinical manifestations CSF Interval CT lesions (lobe)

between
onset Frontal Temporal Parietal Occi-
andCT pital

11 9m Fever, seizures, hemiplegia, coma. Lymph. 6d + ++ hem. -

Outcome: died at 6 days inter
12 13m Fever, seizures, hemiplegia, coma. Lymph. 5d ++ ++
Outcome: died at 8 days
13 13m Fever, unilateral seizures, hemiplegia, Lymph. 3d +
coma. Outcome: slight mental retar- 12 d + ++ +
dation, hemiplegia 10m ++ ++ +
14 6y Fever, drowsiness, unilateral seizures, Lymph. 3d
hemiplegia. Outcome: spastic tetra- inter 3m ++ ++ + +
paresis
15 10 Y Fever, vomiting, headache, unilateral Prot. 5d + + + +
seizures, coma. Outcome: encephalo- lymph. 20 d + ++ +
pathy, behavior problems inter. 1y ++ ++ +
16 2y Fever, unilateral seizures, coma. Prot. 5d ++ ++
Outcome: encephalopathy at 3 years lymph. 3w ++ ++ ++
inter.
17 14m Fever, unilateral seizures, hemiplegia, Lymph. 14 d + + ++
coma. Outcome: hemiplegia, encephalo- inter.
pathy at 2 years
18 5m Fever, seizures, coma. Outcome: ence- Prot. 5y ++ ++ ++
phalopathy at 5 years lymph.
19 11m Fever, seizures Outcome: encephalo- Prot. 5y ++ +
pathy at 5 years lymph.
20 13m Fever, seizures, coma. Outcome: pro- Prot. 5d + +
gressive encephalopathy, blindness, lymph. 3m + demo ++ +
swallowing problems at 16 months inter.

The prognostic value is certainly limited at
the acute stage, because of the progressive ex-
tension of the lesions on repeated examinations.
CT actually appears to be a good tool to judge
the efficacy of proposed antiviral drugs.
References
1. Arvin AM, Yeager AS, Bruhn FW et al. (1982)
Neonatal herpes simplex infection in the absence of
mucocutaneous lesions. J Pediatr 100:715-721
2. Bergey GK, Coyle PK, Krumholtz A et al. (1982)
Herpes simplex encephalitis with occipital localiza-
tion. Arch NeuroI39:312-313
3. Chahlhub EG, Baenziger J, Feigen RD et al. (1977)
Congenital herpes simplex type II infection with ex-
tensive hepatic calcifications, bone lesions and cata-
racts: complete post-mortem examination. Dev Med
Child NeuroI19:527-534
4. Dublin AB, Merten D (1977) Computed tomogra-
phy in the evaluation of herpes simplex encephalitis.
Radiology 125: 133-134
5. Dutt MK, Johnston IDA (1982) Computed tomog-
raphy and EEG in herpes simplex encephalitis. Arch
NeuroI39:99-102
6. Enzman DR, Ransom B, Norman D et al. (1977)
Computed tomography of herpes simplex encephali-
tis. Radiology 125: 133-134
7. Greenberg SB, Taber L, Septimus E et al. (1981)
Computerized tomography in brain biopsy-proven
herpes simplex encephalitis. Early normal results.
Arch Neurol 38: 58-59
166
8. Junck L, Enzman DR, De Armond SJ et al. (1981)
Prolonged brain retention of contrast agent in neo-
natal herpes simplex encephalitis. Radiology
140:123-126
9. Kaufman DM, Zimmerman RD, Leeds NE (1979)
Computed tomography in herpes simplex encephali-
tis. Neurology 29: 1392-1396
10. Koenig H, Rabinowitz SG, Day E et al. (1979) Post-
infectious encephalomyelitis after successfull treat-
ment of herpes simplex encephalitis with adenine
arabinoside. N Engl J Med 300: 1089-1093
Fig. 4.36 a-d. Neonatal herpes infection with pure cuta-
neous and hepatic manifestations. At 2 months of age,
infantile spasms. CT shows multiple porencephalic cysts
in the frontal and occipital regions, ischemic lesions in
the temporal lobes, and numerous intraparenchymatous
calcifications
Infectious Diseases of the Central Nervous System
11. Koskiniemi M, Kekonen L (1981) Herpes simplex
virus encephalitis: progression of lesions shown by
CT. J NeuroI225:9-14
12. Lebon P, Ponsot G, Aicardi J et al. (1979) Early
intrathecal synthesis of interferon in herpes encepha-
litis. Biomedicine 31: 267-271
13. Nahmias AJ, Alford CA, Korones SB (1970) Infec-
tion of the newborn with herpes virus hominis. Adv
Pediatr 17: 185-226
14. Whitley RJ, Nahmias AJ, Visintine AM et al. (1980)
The natural history of herpes simplex virus infection
of mother and newborn. Pediatrics 66 :489-494
Fig. 4.37 a-d. A 5-month-old boy with fever, bilateral
clonic seizures, and coma. CT on the 4th day shows
edema of both cerebral hemispheres except in the region
of the basal ganglia (a, b). One year later, spastic tetra-
paresis and seizures. CT shows diffuse and marked cere-
bral atrophy and ventricular dilatation (c, d)
Herpes Simplex Virus Encephalitis 167

Fig. 4.38 a-f. A 6-month-

old boy with fever, re-
peated partial clonic sei-
zures of the face and upper
limb followed by coma and
hemiplegia. CT 6 days
after onset shows edema-
tous and hemorrhagic le-
sions in both temporopari-
etal regions (a--c). Second
CT scan 2 weeks later
shows increase of the areas
of necrosis (d-f)

Fig. 4.39 a-f. An 8-month-

old boy with unilateral
clonic seizures, fever, and
coma. CT on the 4th day
after onset shows hemor-
rhage in the right temporal
lobe and edematous areas
in both temporal lobes and
nearly the entire right cere-
bral hemisphere (a--c). 6
months later (d-f), destruc-
tion of nearly the entire
right hemisphere and of
the internal part of the left
temporal lobe (d, e)
168 Infectious Diseases of the Central Nervous System

Fig. 4.41 a---d. A 9-month-old girl with clinical findings

Fig. 4.40 a---d. A 2-year-old boy with fever, unilateral
seizures, and coma. Edematous appearance of the right
frontal lobe (a, b). Three weeks later, destruction of both
frontal lobes (c, d)
similar to those of the patient in Fig. 4.40. CT 3 days
after onset shows bilateral areas of edematous and hem-
orrhagic density in both sylvian regions (a, b). Three
weeks later, necrosis of these areas (c, d), a small necrotic
zone in the right thalamic region (c)

Fig. 4.42 a-c. A 5-year-old

boy with spastic tetraple-
gia, cortical blindness, and
seizures 4 years after
herpes encephalitis. CT
shows necrosis of the pos-
terior part of both cerebral
hemispheres

Fig. 4.43 a-c. A 2-year-old

boy, 6 months after herpes
encephalitis. Slight mental
retardation, but no appar-
ent focal defect. CT shows
porencephalic cysts in the
left sylvian and right parie-
tal regions and edematous
appearance of the white
matter (a)
Subacute Sclerosing Panencephalitis
4.5.6 Subacute Sclerosing Panencephalitis
Subacute sclerosing panencephalitis is a rare
disease due to a probably modified measles vi-
rus (6). Its frequency has clearly decreased in
countries where measles vaccination is widely
performed (7). The age of onset ranges from
3 to 20 years. In more than half of the cases
the child has had measles, often before the age
of 3 years. Personality changes, intellectual de-
terioration, and speech and sleep disorders are
the most frequent early signs. Brief, involuntary,
and rhythmic movements, with jerking of the
face, limbs or fingers, torsion spasms of the
trunk, or sudden loss of tone, causing repeated
falls, are typical. Pyramidal and extrapyramidal
hypertonia appears progressively. On EEG, ac-
tivity is depressed, and slow, high-amplitude,
diffuse, pseudoperiodic discharges of slow
waves, spikes, or polyspikes (3, 5) are character-
istic. Chorioretinitis is rare. Total CSF protein
is generally normal, but electrophoresis dis-
closes oligo clonal gammaglobulins. Elevation of
CSF measles antibodies is diagnostic. Pseudotu-
moral symptomatology, with signs of elevated
intracranial pressure such as drowsiness, vomit-
ing, and splitting of the sutures, is exceptional
(4).
Generally the disease progresses steadily to
death in 6 months to 6 years. Spontaneous im-
provement is exceptional (9). At the terminal
stage the child becomes unresponsive and pres-
ents decerebrate rigidity.
On neuropathologic examination (1) the
brain often has a normal macroscopic appear-
ance. Some convolutions may be shrunken and
necrosed. The white matter may be granular,
firm, and slightly translucent. The main micro-
scopic features in the white matter are perivas-
cular cuffing, neuronal loss, and glial prolifera-
tion. Neuronophagia and neurofibrillary degen-
eration may be observed. Intranuclear inclusion
169
bodies may be seen in neurons and oligodendro-
cytes. At a late stage the lesions progress to
complete demyelination and gliosis.
CT is usually normal in the weeks after onset
(2, 8). It may show ventricular compression and
disappearance of the cortical sulci (8). Focal ar-
eas of edematous density touching the white
matter and the adjacent cortex may appear after
the first month (Fig. 4.44). After several months
of evolution, cerebral atrophy becomes marked
and the white matter progressively takes on a
patchy, edematous appearance (Figs. 4.45,
4.46). CT may remain normal after 5 years of
evolution (2) in rare cases.
References
1. Blackwood N (1976) Subacute sclerosing panence-
phalitis. In: Greenfield's Neuropathology, 3rd edn.
Arnold, London, pp 312-314
2. Duda EE, Huttenlocher PR, Patronas NJ (1980) CT
of subacute sclerosing panencephalitis. AJNR
1:35-38
3. Gimenez-Roldan S, Martin M, Mateo D et al. (1981)
Preclinical EEG abnormalities in subacute sclerosing
panencephalitis. Neurology 31: 763-767
4. Glowacki J, Guazzi GC, Van Bogaert L (1967)
Pseudo-tumoral presentation of certain cases of sub-
acute sclerosing panencephalitis. J Neurol Sci
4: 199-215
5. Ibrahim MM, Jeavons PM (1974) The value of EEG
in diagnosis of subacute sclerosing panencephalitis.
Dev Med Child NeuroI16:295-307
6. Mandelbaum DE, Hall WW, Daneth N et al. (1980)
Subacute sclerosing panencephalitis, measles virus
and matrix protein. Ann Neurol 8: 213-214
7. Modlin JF, Jabbour IT, Witte 11 et al. (1977) Epide-
miologic studies of measles, measles vaccine and su-
bacute sclerosing panencephalitis. Pediatrics
59:505-512
8. Pedersen H, Wulff CH (1982) Computed tomo-
graphic findings of early subacute sclerosing panence-
phalitis. Neuroradiology 23:31-32
9. Risk WS, Haddad FS (1979) The variable natural
history of subacute sclerosing panencephalitis. Arch
Neuro136:610--614
170
Fig. 4.44 a-c. A 16-year-old nonvaccinated boy with no
previously observed measles presenting subacute scleros-
ing panencephalitis. Onset 3 years previously was
marked by progressive deterioration of behavior and
gait, dysarthria, and periodic myoclonias of the face and
the trunk. EEG was typical, with diffuse periodic com-
Fig. 4.45 a--c. A lO-year-old girl with measles when 3
years old; 8-month history of school difficulties, 6-
month history of episodes of break-off of social contact
and behavioral disturbances, soon followed by right
myoclonic jerks. EEG reveals diffuse periodic com-
Fig. 4.46 a--c. A 16-year-old girl with subacute sclerosing
panencephalitis evolving since the age of 10 years. The
patient now shows no social responsiveness and has
spastic tetraparesis. CT: cerebral atrophy, areas of ede-
Infectious Diseases of the Central Nervous System
plexes of high amplitude, and CSF revealed an oligo-
clonal profile of the proteins. Measles antibodies were
increased. The patient is now disoriented, apraxic, and
shows extrapyramidal hypertonia of the limbs. CT: ar-
eas of edematous density in the left temporoparietal and
right frontoparietal regions, ventricular enlargement
plexes, CSF shows an increase in total protein with oli-
goclonal profile. Measles antibodies are clearly in-
creased. She now has spastic tetra paresis and no social
contact. CT: marked ventricular dilatation, patchy, ede-
matous appearance of the cerebral hemispheres
matous density around the frontal horns and the ventric-
ular trigones, small calcifications within the zones of
edematous density
Congenital Rubella
4.5.7 Congenital Cytomegalovirus Infection
Conge~ital cytomegalovirus infection affects
around 1 % of live births. Infection generally
is transplacental, rarely perinatal. Symptoms
appear in the neonatal period and include pete-
chiae, jaundice, and hepatosplenomegaly. Cen-
tral nervous system damage occurs in about
10% of cases, and consists of microcephaly
(70%), mental retardation (61 %), hearing loss
(30%), neuromuscular disorders (35%), cho-
rioretinitis or optic atrophy (22%) (4, 5), and
various types of seizures including infantile
spasms (7). Children asymptomatic at birth may
later present neurologic troubles or sudden
death (6). Cytomegalovirus infection may favor
bacterial meningitis and dural infection (1).
CSF protein is elevated in half the cases.
Increased levels of cord serum IgM, lymphocy-
tosis, and elevated SGOT are frequent. Virus
isolation from urine in the first month of life
is diagnostic.
On neuropathologic examination, cerebellar
hypoplasia, porencephaly, micropolygyria, peri-
ventricular intracerebral calcifications (2), and
hydranencephaly have been reported (3).
Plain skull films may show characteristic
fine, curvilinear calcifications surrounding the
lateral ventricles. On CT the lateral ventricles
and cortical sulci are enlarged. The ventricles
are surrounded by multiple, small calcifications
(Fig. 4.47).
Porencephalic cysts (Fig. 4.48) may be mul-
tiple and lead to hydranencephaly. In minor
forms CT may be normal, or show in the neona-
tal period areas of edematous density that will
later form porencephalic cysts. Repeated CT
may show progressive cerebral atrophy, suggest-
ing either resorption of destroyed cerebral tissue
or subacute evolution of the cytomegalovirus
infection (6).
References
1. Bale JF, Reiley TT, Bray PF et al. (1980) Cytomega-
lovirus and dural infection in infants. Arch Neurol
37:236-238
2. Bignami A, Appiatole L (1964) Micropolygyria and
cerebral calcification in cytomegalic inclusion disease.
Acta Neuropathol4: 127-137
171
3. Bray PF, Bale JF, Anderson RE et al. (1981) Progres-
sive neurological disease associated with chronic cy-
tomegalovirus infection. Ann N eurol 9: 499-502
4. Panjvani ZF, Hanshaw JB (1981) Cytomegalovirus
in the perinatal period. Am J Dis Child 135: 56-60
5. Pass RF, Stagno S, Myers GJ et al. (1980) Outcome
of symptomatic congenital cytomegalovirus infection.
Results of long term longitudinal follow-up. Pediat-
rics 66:758-762
6. Stagno S, Pass RF, Reynolds DW et al. (1980) Com-
parative study of diagnostic procedures for congenital
cytomegalovirus infection. Pediatrics 65: 251-257
7. Watanabe K, Iwase K, Hara K (1973) The evolution
of EEG features in infantile spasms: a prospective
study. Dev Med Child Neurol15: 584--596
4.5.8 Congenital Rubella
Congenital rubella results from contamination
prior to the 20th week of gestation, mainly prior
to the 4th week. The incidental risk is about
10% to 12%, and the main clinical manifesta-
tions (1) are: cardiac malformations (52%), in-
cluding patent ductus arteriosus, stenosis of the
pulmonary artery, and atrial or ventricular sep-
tal defect; hearing loss (52%); cataract, micro-
phthalmos, buphthalmos, or retinopathy
(40%); and psychomotor retardation, often as-
sociated with microcephaly (24%). Hepatome-
galy, thrombocytopenia, meningoencephalitis,
and hepatitis are the expression of persisting
viral infection.
Neurologic manifestations may appear after
as long as 1 year. Lethargy, bulging fontanelles,
microcephaly, mental retardation, seizures,
deafness, and focal neurologic deficits are the
main clinical features (2). The protein content
of the CSF is increased and shows a monoclonal
profile.
Chronic meningitis with small, essentially
periventricular foci of necrosis resulting from
vasculitis may be observed (4). Aqueductal ste-
nosis is exceptional (3). Delayed myelination
and cerebral growth probably result from con-
tinued viral replication.
Plain skull films show microcrania, excep-
tionally intracranial calcifications. On CT the
brain generally appears small but of normal ap-
pearance; intracerebral calcifications and areas
of edematous density or of necrosis are excep-
tional.
172
References
1. Cooper LZ, Krugman S (1967) Clinical manifesta-
tions of postnatal and congenital rubella. Arch Oph-
thalmol 77: 434-439
2. Desmond M, Wilson G, Melnik J et al. (1967) Con-
Fig. 4.47 a-d. A 4-week-old boy with microcephaly and
infantile spasms. Cytomegalovirus isolation from urine
is positive. CT shows ventricular enlargement and nu-
merous small periventricular calcifications
4.5.9 Parainfectious Acute Obstructive
Hydrocephalus
Acute onset of increased intracranial pressure
or brain stem dysfunction has exceptionally
been reported in the course of viral meningitis
due to mumps virus (1) and Epstein-Barr virus
(2). CT shows dilatation of the lateral ventricles
and of the third ventricle, contrasting with a
normal fourth ventricle and suggesting aque-
ductal stenosis (2). Normal neurologic develop-
ment, normal cranial circumference, and normal
skull films seem to rule out misdiagnosed con-
genital aqueductal stenosis. Emergency shunt-
ing may be required.
Infectious Diseases of the Central Nervous System
genital rubella encephalitis. J Pediatr 71 :311-331
3. Serwar M, Azar-Kia B, Mannie FFR et al. (1974)
Aqueductal occlusion in the congenital rubella syn-
drome. Neurology 24: 198-201
4. Singer BD, Rudolf AJ, Harvey S et al. (1967) Pathol-
ogy of the congenital rubella syndrome. J Pediatr
71:665-675
Fig. 4.48 a, b. A 2-week-old girl with seizures, jaundice,
and hepatomegaly. CT shows a porencephalic cyst in
the right temporoparietal region with dilatation of the
right ventricular trigone and very small calcifications
surrounding it
References
1. Thompson JA (1979) Mumps: a cause of acquired
aqueductal stenosis. J Pediatr 94: 923-924
2. Yanofsky CS, Hanson PA, Lepow M (1981) Parain-
fectious acute obstructive hydrocephalus. Ann Neu-
rol 10:62-63
4.5.10 Guillain-Barre Syndrome
Guillain-Barre syndrome is mainly character-
ized by progressive symmetrical paralysis of the
limbs with deep tendon areflexia and elevated
CSF protein. Cranial nerve signs may inlcude
unilateral facial paralysis and ophthalmoplegia.
Multiple Sclerosis
The latter may even predominate in Fisher's
syndrome (1). Pyramidal signs and seizures are
rare (3). Papilledema may appear, usually late
in the course of the disease; it is generally asso-
ciated with clinical signs of increased intracrani-
al pressure, arterial hypertension, and very high
CSF protein levels. In these cases CT shows
marked ventricular dilatation, believed to result
from obstruction of the pacchionian bodies by
the high CSF protein levels (2).
References
1. Bell W, Van Allen M, Black1)lan J (1970) Fisher syn-
drome in childhood. Dev Med Child Neurol
12:758-766
2. Farrell K, Hill A, Chuang S (1981) Papilledema in
Guillain-Barre syndrome. Arch Neurol 38: 55-57
3. Gamstrop I (1974) Encephalo-myelo-radiculo-neu-
ropathy: involvement of the CNS in children with
Guillain-Barn':-Strohl syndrome. Dev Med Child
NeuroI12:758-766
4.5.11 Multiple Sclerosis
Multiple sclerosis in the classical Charcot type
is characterized by multifocal, relapsing-remit-
ting, inflammatory manifestations of the central
nervous system.
Onset is rare before the age of 7 years, but
occasional cases have been reported before the
age of 3 years (3, 4). Optic neuritis, nystagmus,
cerebellar syndrome, brain stem and spinal cord
dysfunction, hemiplegia, dysesthesia, sphincter
problems, paraplegia, and meningeal signs are
the most frequent clinical manifestations. Fever
is frequent in children (1, 6). CSF protein and
cells are elevated in half the cases. Oligoclonal
distribution of CSF gammaglobulins and reduc-
tion of circulating T-suppressor cells (4) are fre-
quent in active multiple sclerosis.
On neuropathologic examination, dissemin-
ated and multiple plaques of demyelination of
various ages are located most often in the white
matter, basal ganglia, brain stem, cerebellum,
spinal cord, and optic nerves (2). In the first
few days, the lesions consist of structural chan-
ges in the myelin sheaths and microglial prolif-
eration. In the subsequent weeks, myelin is pha-
173
gocytosed and oligodendrocytes disappear. Fi-
brillary gliosis appears over the next months.
At this stage the myelin sheaths are interrupted
at the edge of the plaque of demyelination,
where there persists an excess of small glial cells,
proving that old plaques have active cellular
margins.
CT is often normal during the first weeks
following onset of the first stage or of a relaps-
ing acute stage (7), though in our experience
with nine pediatric and juvenile patients, lesions
were present in over half the cases on the first
examination in the days or weeks following on-
set. At the acute stage, the plaques of demyelin-
ation appear as small, well-delimited areas of
edematous density in the white matter (4). After
administration of contrast material, active and
recent plaques show clear and homogeneous
contrast enhancement (Figs. 4.49-4.52) (5J.
Contrast enhancement is slow, delayed, and
generally more marked an hour after adminis-
tration (9). Large plaques may show a moderate
mass effect (Figs. 4.51, 4.52). A marginal rim
of contrast enhancement around the areas of
edematous density may appear during a relapse
(3). At later stages the plaques are no longer
detectable; signs of diffuse cerebral atrophy ap-
pear (Fig. 4.50).
The rare Schilder's type of multiple sclerosis
may be observed in young patients (8). It is an
acute or subacute, progressive, nonremitting
disease with mental disturbance, blindness, and
deafness. It is lethal within a few weeks or
months. On neuropathologic examination, cere-
bral edema may be marked, with large clear-cut
areas of demyelination of both cerebral hemi-
spheres and a tendency to spare a rim of the
subcortical white matter.
The Balo type of multiple sclerosis may be
observed during the second decade of life. It
is characterized by progressive, nonremitting fo-
cal neurologic defects such as hemiplegia, apha-
sia, and ataxia. On neuropathologic examina-
tion, some of the multiple plaques have a con-
centric laminated structure.
The Devic type of mUltiple sclerosis asso-
ciates optic neuritis and paraplegia.
174
References
1. Arthuis M, Picard A (1974) La sclerose en plaques
de I'enfant. In: J ournees Parisiennes de Pediatrie.
Flammarion, Paris, pp 115-132
2. Blackwood W, Consellis JAN (1976) Multiple sclero-
sis. In: Greenfield's neuropathology, 3rd edn. Ar-
nold, London
3. Brandt S, Gyldensted C, Offner H et al. (1981) Multi-
ple sclerosis with onset in a two year old boy. Neu-
ropediatrics 12:75-81
4. HauserSL, Bresnan MJ, Reinhertz FL et al. (1982)
Childhood multiple sclerosis: clinical features and
demonstration of changes in T cell with disease activi-
ty. Ann Neurol11 :463-468
Fig. 4.49 a-d. A 15-year-old boy with paresthesias of
the right upper limb extending rapidly to the whole right
hemibody, followed by unilateral blurred vision. The
CSF shows a normal cytology and total protein content,
but oligoclonal profile. CT performed 2 weeks after on-
set (with contrast enhancement) shows multiple, dense
plaques of demyelination predominating in the left parie-
to occipital region
Infectious Diseases of the Central Nervous System
5. Lebow S, Anderson DC, Mastri A et al. (1978) Acute
multiple sclerosis with contrast-enhancing plaques.
Arch Neurol 35 :435-439
6. Low NL, Carter S (1956) Multiple sclerosis in chil-
dren. Pediatrics 18: 24-30
7. Mikol F, Boucharene A, Aubin ML et al. (1980) La
tomodensitometrie dans Ie sclerose en plaques. Rev
NeuroI136:481-490
8. Poser CM (1957) Diffuse-disseminated sclerosis in the
adult. J Neuropathol Exp NeuroI16:61-78
9. Sears ES, McCammon A, Bigelow R et al. (1982)
Maximizing the harvest of contrast enhancing lesions
in multiple sclerosis. Neurology 32:815-820
Fig. 4.50 a-d. A 16-year-old boy who presented the first
manifestations of multiple sclerosis, consisting of tran-
sient dysesthesias in the left limbs at the age of 14 years.
The current second episode is limited to a cerebellar
syndrome. CT shows plaques of various ages - ancient
of edematous density, recent with contrast enhancement
- and cerebral atrophy
Multiple Sclerosis 175

Fig. 4.51 a-f. A 17-year-old girl with rapidly progessive

hemiplegia and history of regressive cerebellar syndrome
2 years before. CT before injection of contrast material
shows a large edematous zone in the right frontal region
(a, b), with clear increase in density after contrast en-
hancement (c, d). Two months later, neurologic exami-
nation and CT (e, f) can be considered normal

Fig. 4.52 a-c. A 17-year-old patient with palsy of the
left VII cranial nerve, dysesthesias of the right upper
limb, nystagmus, and vertigo. CT discloses a zone of
edematous density with contrast enhancement at its pe-
riphery in the midbrain and in the right thalamus; the
third ventricle is displaced to the left, and the lateral
ventricles are moderately enlarged (a). One month later,
CT reveals a slight regression of the midbrain lesion
and extension of the thalamic lesion to the basal ganglia
region (b). Two months after onset, neurologic examina-
tion may be considered normal; CT shows the persis-
tence of a small dense plaque in the midbrain region
(c)
176
Parasitic Diseases
4.6 Toxoplasmosis
Toxoplasma gondii is a unicellular parasite re-
producing in the intestinal mucosa of a specific
host, the cat. Cysts are excreted and may infest
various occasional hosts, including man. Infec-
tion is usually latent or accompanied by mini-
mal clinical symptoms. Severe infection may de-
velop in the fetus or in the immunodepressed
child and adult. Activation of latent fetal infec-
tion may lead to delayed ocular or neurologic
manifestations in children (6, 8). Diagnosis is
based on serology, pathologic examination, and
inoculation of placenta in mice.
Congenital toxoplasmosis is the most fre-
quent infectious fetopathy. In France it affects
3%0 of pregnancies, secondary to the acute inva-
sion of the mother. Exceptional cases of recur-
rent fetal toxoplasmosis are supposed to result
from uterine cysts (5). Frequency and gravity
of fetal invasion depend on the term of maternal
mvaSIon:
- Frequency is 17%,25%, and 65% in the first,
second, and third trimester respectively.
- Gravity and frequency of the cerebral lesions
decrease from the first to the third trimester.
Clinical manifestations depend on the severi-
ty of the anatomic lesions, which are clearly cor-
related to the time of fetal invasion. Severe
forms resulting from early invasion present with
fever or hypothermia, hepatosplenomegaly,
adenopathies, pneumonia, and neurologic and
ocular manifestations such as meningoencepha-
litis, hydrocephalus, microcephaly, micro-
phthalmia, and chorioretinitis. Convulsions, ce-
rebral palsy, and mental retardation may appear
later. In less severe forms, hydrocephalus may
be observed when the child is a few months or
years old. Chorioretinitis is often the only mani-
festation when the fetal infection occurred in
the third trimester. CSF is usually abnormal
from birth in cases with cerebral lesions : hyper-
proteinorachia and lymphocytosis are nearly
constant.
Neuropathologic lesions (7) consist of men-
ingeal inflammation and areas of necrosis in the
meninges and the brain. The areas of necrosis
predominate in the basal ganglia, the adjacent
Infectious Diseases of the Central Nervous System
white matter, and the region of the aqueduct
of Sylvius. The ventricles are surrounded by in-
flammatory and necrotic tissue. Histologic ex-
amination shows macrophages in the zones of
necrosis, which are surrounded by lymphocytes,
epithelioid cells, and plasma cells. Detection of
the parasite, which only appears in its encysted
form, in the inflammatory nodules is difficult.
Calcification of the areas of necrosis in the basal
ganglia and around the lateral ventricles is gen-
erally present at birth; it increases in the first
months of life. Ventricular enlargement may be
secondary either to the resorption of necrotic
tissue or to aqueductal stenosis; most often it
results from both (2, 4, 7). Developmental le-
sions of the brain such as hydranencephaly and
polymicrogyria (4) may be seen in forms with
particularly early fetal infection.
On plain skull films, calcifications of toxo-
plasmosis are generally multiple, small, and
have a grossly periventricular distribution; nu-
merous calcifications may remain undetected.
The CT appearance of the lesions is grossly
correlated with the time of fetal infection (Ta-
ble 4.41). In the cases with fetal infection during
the first 5-6 months of pregnancy, enlargement
of the third ventricle and of the lateral ventricles
is constant. The enlargement is very marked,
and contrasts with a small fourth ventricle in
cases involving aqueductal stenosis (Figs. 4.54,
4.55). Dilatation of the lateral ventricles always
predominates in their posterior half, where the
cerebral mantle may become very thin. Ventric-
ular dilatation is less marked when resulting
from resorption of necrotic tissue or from cere-
bral atrophy (Fig. 4.56). Grossly symmetrical
multiple porencephalic cysts, realizing an ence-
phalomalacia (Fig. 4.53) and hydranencephaly
may be seen in particularly severe forms. Calci-
fications are generally multiple and grossly sym-
metrical. They may partly or almost completely
occupy the basal ganglia (Figs. 4.53-4.55). They
have a predilection for the periventricular re-
gion, but may be seen some distance away in
the cerebral tissue (Figs. 4.56, 4.58). They are
exceptionally located in the aqueductal region
(Fig. 4.56a). Microphthalmia and ocular calcifi-
cations are easily observed on CT (Fig. 4.57 a).
In the cases of fetal infection in the last trimes-
Toxoplasmosis 177

Table 4.4. Clinical and neuroradiologic symptoms in 31 cases of congenital toxoplasmosis

Case Date of Preventive Clinical signs CT

maternal treatment - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -
serocon- Hydro- Seizures Age Mental Chorio- Calcifi- Ventricular Porence-
version a cephalus retardation retinitis cation dilatation phaly

37w yes 10m

2 no 24m ++ +
3 28 w yes + 6w ++ ++ + ++
4 no + + 1y ++ + ++
5 30w yes 1m
6 32 w yes 5m + +
7 32w yes 3w + + +++ +
8 no + + 2m +++ ++ +++ +++ +
9 no + + 6y ++ + + ++
10 23 w yes + + 3w + ++
11 23 w yes 2m + + +
12 23 w yes + 1d + ++ ++ + +++
13 28 w yes 2m
14 no 7y + ++ + +
15 23 w yes + 1d + + +
16 19 w yes + 1w +++ + +++ +++ ++
17 no + + 17m + + + ++
18 19 w yes + + 3m + ++ ++ +++
19 no + 5m +++ ++ ++ +++ ++
20 28w yes + + Id + + + ++
21 23 w yes 1y ++ +
22 no + 3y ++ ++ + ++
23 19 w yes + 1d ++ +
24 no + + 4y + ++ ++ ++
25 15 w yes + 1d + + +++
26 30w yes 10m ++ +
27 30w yes 4m
28 16 w yes 2w ++
29 17 w yes lw +
30 29w yes 9m +
31 29 w yes 9m ++ +
Abbreviations: - = absent or not noted; + = present; + + =marked; + + + = severe
aAccuracy: ± 2 weeks

ter, CT frequently remains normal. Small peri-
ventricular and intracerebral calcifications are
rarely numerous. Ventricular enlargement is ex-
ceptional (Fig. 4.58).
Preventive maternal treatment is ineffective
in conferring real protection (3) (Table 4.4).
References
1. Altshuler G (1973) Toxoplasmosis as a cause of hy-
dranencephaly. Am J Dis Child 125:251-252
2. Couvreur J, Desmonts G (1978) Congenital toxoplas-
mosis. In: Vinken PJ, Bruyn GW (eds) Handbook
of clinical neurology, vol 35. North Holland, Amster-
dam, pp 115-141
3. Diebler C, Dusser H, Dulac ° (1985) Congenital
toxoplasmosis. Neuroradiology 27: 125-130
4. Friede RL (1975) Developmental neuropathology.
Springer, New York Wien, pp 159-162
5. Langer H (1963) Repeated congenital infection with
Toxoplasma gondii. Obstetrics Gynecol21: 318-328
6. Robinson RO, Baumann RJ (1980) Late cerebral re-
lapse of congenital toxoplasmosis. Arch Dis Child
55:231-232
7. Weber F (1983) Les lesions cerebrales de la toxoplas-
mose congenitale. He1v Paediatr Acta [Suppl]
48: 1-51
8. Wilson CB, Remington JS, Stagno S et al. (1980) De-
velopment of adverse sequelae in children born with
subclinical toxoplasma infection. Pediatrics 66:
767-774
178 Infectious Diseases of the Central Nervous System

Fig. 4.54 a-d. A 1-week-old girl with hydrocephalus,

mental retardation, chorioretinitis, and hyperproteino-
rachia. Maternal seroconversion around the 19th week
of pregnancy is followed by preventive treatment. CT
Fig. 4.53 a-d. A 5-month-old girl with marked microce- shows hydrocephalus by obstruction of the aqueduct of
phaly, psychomotor retardation, seizures, and choriore-
Sylvius and massive intracerebral calcifications predomi-
tinitis. Date of maternal seroconversion is unknown. nating in the basal ganglia region
CT: microcrania, marked ventricular enlargement, nu-
merous calcifications in the basal ganglia region (a, b)
and around the lateral ventricles, porencephalic cysts
in the frontal lobes (c, d)

Fig. 4.55 a-c. A 17-month-old boy with macrocrania, tis. CT: hydrocephalus by aqueductal stenosis, multiple
seizures, moderate mental retardation, and chorioretini- periventricular and intracerebral calcifications
Toxoplasmosis 179

Fig. 4.56 a-d. Date of maternal seroconversion about

the 23rd week; preventive maternal treatment. Clinical
examination is normal in the neonatal period and at
the age of 30 months, but CSF shows hyperproteinora-
chia and fundoscopic examination focal chorioretinitis.
CT: asymmetrical and apparently unexplained enlarge-
ment of the right lateral ventricle, multiple periventricu-
lar and intracerebral calcifications

Fig. 4.57 a-c. Date of maternal seroconversion about microphthalmia. At 30 months his neurologic examina-
the 23rd week, preventive treatment. In the neonatal tion is normal, but he has unilateral blindness. CT: left
period the patient presents with hepatosplenomegaly, microphthalmia (a), moderate ventricular enlargement
jaundice, axial hypotonia, chorioretinitis, and unilateral with rare periventricular calcifications

Fig. 4.58 a-c. Maternal seroconversion about the 29th neurologic examination is normal. CT shows rare intra-
week followed by preventive treatment. At the age of cerebral and periventricular calcifications
3 years the patient presents sequelae of chorioretinitis;
180
4.7 Cerebral Hydatid Cyst
Endemic echinococcosis is common in sheep-
farming countries, where cerebral hydatid cysts
may represent up to 3% and even 10% of all
intracranial masses (4, 6). The brain is involved
in about 2% of all cases of hydatid disease, but
in children cerebral infection is seven times more
frequent than in adults (2). In most cases, an
associated cyst can be demonstrated elsewhere
in the body, most often in the liver; this was
the case in 6 of our 10 personal observations.
Cerebral hydatid cysts are often very large,
especially in children. Their slow rate of growth
(9), with only gradual compression of the sur-
rounding brain, explains why they are tolerated
for a long period and why the majority of the
patients are seen for isolated increased intracra-
nial pressure with or without visual symptoms
(1,2). Focal neurologic deficit is rare. The slow
growth rate of the cyst also explains why most
of the pediatric cases are seen after the age of
6 years; the youngest patient in our series was
aged 4 years. Biological echinococcosis reaction
test remains negative in isolated cerebral cysts;
their positivity points to other locations.
Neuroradiologic examinations, especially
CT, are thus essential for the diagnosis of cere-
bral hydatid cyst. The most suggestive and fre-
quent appearance of hydatid cyst on CT is that
of a homogeneous round or oval mass with a
density close to that of the CSF. The contours
of the mass are regular. The surrounding com-
pressed cerebral tissue may present a higher
than normal density and show slight enhance-
ment after injection of contrast material (3, 4,
Infectious Diseases of the Central Nervous System
5, 7) (Figs. 4.59,4.60). The cyst may appear het-
erogeneous in the rare multivesicular type (4).
Dense cysts with clear contrast enhancement of
their walls suggest superinfection. Multiple cysts
are rare (8). Location in the osseous structures
of the skull with intracranial involvement or in
the dura mater is exceptional (4); the cyst may
thin and destroy the squama (Fig. 4.61). Intra-
ventricular dissemination is rare, but its progno-
sis is poor (Fig. 4.62).
Treatment of intracranial hydatid cyst is sur-
gical.
References
1. Arana-Iniguez R (1978) Echinococcus. In: Vinken
PJ, Bruyn GW (eds) Handbook of clinical neurology,
vol 35. North Holland, Amsterdam, pp 175-208
2. Carcassonne M, Aubrespy P, Dor Vet al. (1973) Hy-
datid cysts in childhood. Prog Pediatr Surg 5: t-35
3. Fabiani A, Trebini F, Torta R (1980) Brain hydatido-
sis: report of two cases. J N eurol N eurosurg Psychiatr
43:91-94
4. Hamza R, Touibi S, Bardi-Bellogho I et al. (1982)
Intracranial and orbital hydatid cysts. Neuroradio-
logy 22:211-214
5. Kaya U, Ozden B, Tiirker K (1975) Intracranial hy-
datid cysts. Study of 17 cases. J Neurosurg
42:580--584
6. Obrador S, Ortiz Gonzalez JM (1960) Revision de
40 casos de quistes hidaticos del encefalo. Rev Clin
Esp 79:176--180
7. Ozgen T, Erbengi A, Bertan V et al. (1979) The use
of computerized tomography in the diagnosis of cere-
bral hydatid cysts. J Neurosurg 50: 339-342
8. Sharma A, Abraham J (1983) Multiple giant hydatid
cysts of the brain. J Neurosurg 57:413-415
9. Vaquero J, Jimenez C, Martinez R (1982) Growth
of hydatid cysts evaluated by CT-Scanning after pre-
sumed cerebral hydatid embolism. J Neurosurg
57:837-838
Cerebral Hydatid Cyst 181

Fig. 4.59 a, b. A 7-year-old boy of North African origin Fig. 4.60 a, b. A 13-year-old North African boy with
with isolated increased intracranial pressure. CT: large increased intracranial pressure, hemiparesis, and visual
hydatid cyst in the left sylvian region loss. CT shows a particularly voluminous right frontal
hydatid cyst

Fig. 4.61 a--c. A 12-year-old North African girl with ietal vault. CT: multiple hydatid cysts between the brain
known hepatic hydatid cysts, bulging of the temporopar- and the thinned squama

Fig. 4.62 a--c. A 6-year-old boy with increased intracrani- type ruptured into the ventricular system (small cysts
al pressure, obnubilation, and severe denutrition. CT can be detected in the left posterior horn), thus creating
shows a left frontal hydatid cyst of the multivesicular secondary obstructive hydrocephalus
182
4.8 Cysticercosis
Cysticercosis is a parasitic disease in which man
serves as the intermediate host of Taenia solium.
The larvae have a predilection for the central
nervous system, where they may have a paren-
chymal, intraventricular, or subarachnoid loca-
tion. Endemic areas are Central and South
America, Africa, Asia, Eastern Europe, and
Spain. Man may be infested by contaminated
food. The average inoculation period is 5 years,
but may be as short as several months or as
long as 10 to 20 years.
The clinical symptoms depend primarily on
the number oflarvae present, their location, and
their duration. The most common presenting
complaint is epilepsy with generalized or focal
seizures, encountered in over 90% of the cases
(1,2). Focal neurologic signs such as hemipare-
sis, paresis of cranial nerves, paresthesias, or
visual disturbances may be seen in up to
20%-30% of the cases. Behavior disturbances
and dementia may be observed. Increased intra-
cranial pressure may be secondary to volumi-
nous intracerebral cysts or more often to ob-
structive hydrocephalus.
Diagnosis is based on residence in an endem-
ic area, on radiologic findings, on CSF eosino-
philia (3) and complement fixation reaction (2),
and on biopsy of a subcutaneous or cerebral
cyst.
According to the areas of involvement, cysti-
cercosis can be meningobasal, mixed, parenchy-
mal, intraventricular, or spinal. The relative fre-
quency of these locations varies largely in differ-
ent series (1, 2).
Parenchymal lesions can have various ap-
pearances:
The cystic type of lesion is usually solitary
and round or oval with a diameter between
2 and 6 cm (1). It has a density close to that
of CSF. After contrast enhancement, density
of the capsule of the cyst clearly increases (1,
4). The mass effect is commonly associated
with this lesion. At surgery the cyst contains
clear fluid with a scolex.
The homogeneous lesion, generally solitary,
presents as a small area of edematous density
Infectious Diseases of the Central Nervous System
before administration of contrast material,
and as a homogeneous, dense area afterward.
Its diameter varies from 1 to 2 cm. A mass
effect is generally not observed (Fig. 4.63).
Calcifications may appear after some years
of evolution. Usually there are only one or
two calcifications. Diffusely scattered calci-
fied lesions are uncommon. The calcifications
are small (2-6 mm) and are usually located
at the junction of the gray and white matter
(Fig. 4.64). Cerebellar calcifications are un-
common (5). The presence of calcifications
does not rule out the concomitant presence
of living larvae.
Intraventricular cysts may lead to obstruc-
tive hydrocephalus. Obstruction of the foramen
of Monro leads to asymmetrical dilatation of
the lateral ventricles. A preferential location is
the fourth ventricle, which is distended and de-
formed by the cyst. The fine walls of the cysts
render their detection on CT difficult without
opacification of the CSF by metrizamide (7).
Arachnoid lesions may lead to hydrocepha-
Ius; they may be suspected on CT on enhance-
ment of the basal cisternae after contrast materi-
al administration (7).
Cysticercosis may induce vasculitis (2, 6),
ischemic lesions, and exceptional mycotic aneu-
rysms (7).
References
1. Byrd SE, Locke GE, Biggers S et al. (1982) The com-
puted tomographic appearance of cerebral cysticerco-
sis in adults and children. Radiology 144: 819-823
2. Carbajal JR, Palacios E, Azar-Kia B et al. (1977) Ra-
diology of cysticercosis of the central nervous system
including computed tomography. Radiology
125:127-131
3. Char DFB, Segall RD, Miller C et al. (1967) Eosino-
philic meningitis among children in Rawai. J Pediatr
70:28-35
4. Mervis B, Lotz JW (1980) Computed tomography
(CT) in parenchymatous cerebral cysticercosis. Clin
Radiol 31: 521-528
5. Percy AK, Byrd SE, Locke GE (1980) Cerebral cysti-
cercosis. Pediatrics 66: 967-971
6. Segall RD, Rumbaugh CL, Bergeron RT et al. (1973)
Brain and meningeal infections in children. Radiolog-
ical considerations. Neuroradiology 6:8-16
7. Zee CS, Segall RD, Miller C et al. (1980) Unusual
neuroradiological features of intracranial cysticerco-
sis. Radiology 137: 397-407
Cysticercosis
Fig. 4.63 a-f. A 15-year-old boy with repeated adversive
seizures of recent onset, without neurologic signs. Anam-
nesis reveals recent residence for some years in Madagas-
car. Serology is positive for cysticercosis. CT (after con-
trast enhancement): small, dense, right frontobasal area
Fig. 4.64 a-c. An 18-year-old patient with a history of
repeated seizures. Neurologic examination is normal.
183
surrounded by a large halo of edematous density. The
mass effect remains moderate (a-c). Two months later,
after specific medical treatment, the dense lesion has
vanished, the edema regressed (d-f)
Serology is positive for cysticercosis. CT shows multiple
small clacifications in the parieto-occipital regions
5 Vascular Disorders
5.1 Prenatal and Perinatal Cerebral
Lesions of Circulatory Origin
Prenatal and perinatal cerebral lesions due to
circulatory disturbances represent one of the
major causes of cerebral damage in infancy and
childhood. They may become apparent immedi-
ately after or even before birth, or be discovered
only in childhood. Their causes are multiple and
may be divided into several predominant phys-
iopathologic mechanisms, such as reduction of
the cerebral blood flow, sudden obstruction of
the cerebral vessels, dysregulation of the cere-
bral blood flow, and intravascular coagulation.
The appearance of the cerebral lesions may be
predominantly ischemic or hemorrhagic; it is
frequently characteristic of the etiology.
1) Several physiopathologic mechanisms
may lead to pre- and perinatal cerebral lesions
of circulatory origin:
a) Acute fetal hypovolemia may be secondary
to hemorrhage, as in placenta previa at the
end of the pregnancy, or to fetomaternal or
fetofetal transfusion. The fetal circulation is
theoretically independent, but at the end of
pregnancy, fetomaternal (52) or fetofetal cir-
culatory anastomosis may exist.
b) Acute fetal circulatory failure may result
from hemorrhage, fetofetal or fetomaternal
transfusion, maternofetal infection, severe
maternal anaphylactic reaction (34) (one per-
sonal case), or maternal abdominal trauma
(38).
c) Acute fetal anoxia may have such varying
causes as maternal carbon monoxide intoxi-
cation (10), abruptio placentae, eclampsia
with maternal seizures (one personal case),
mechanical dystocia, and complicated breech
delivery. The fetal brain, with its predomi-
nantly anaerobic metabolism, tolerates an-
oxia relatively well, but associated cardiac in-
sufficiency with reduction of the cerebral
blood flow and acidosis may rapidly induce
cerebral edema and irreversible lesions.
d) Increased fetal blood viscosity and activation
of coagulation mechanisms may induce cere-
brallesions such as those observed in mater-
nal diabetes (95) and fetal polycythemia (6).
Disseminated intravascular coagulation has
been observed in severe fetomaternal infec-
tion, in abruptio placentae, and in several ob-
servations of twin pregnancies with macer-
ated twin fetus.
e) Embolic migrations leading to focal cerebral
ischemia may have various origins, such as
the placenta (21), the cord (51), congenital
heart disease, and arterial catheters (72), but
most often the precise origin remains unde-
tected.
f) Chronic fetal anemia may result from feto-
fetal and feto-maternal transfusion and from
chronic hemolytic anemia of the fetus (12);
it may induce hydrops fetalis (74) and hypo-
and hypertrophy of one fetus each in twin
pregnanCIes.
g) Chronic placental insufficiency with chronic
fetal ischemia may result from toxemia and
postmaturity.
h) The precise mechanism of cerebral lesions in
congenital isoimmune thrombocytopenia is
unknown, but the neuroradiologic appear-
ance of the cerebral lesions in published ob-
servations (66) and four personal cases sug-
gests hemorrhagic and circulatory distur-
bances (Fig. 5.1).
2) These acute or chronic perturbations of
the fetal circulation may lead to loss of arterial
autoregulation mechanism (57), most important
in avoiding sudden increase or reduction in cap-
illary blood pressure. Acute variations of sys-
temic blood pressure are therefore insufficiently
186
compensated in the brain arteries and thus may
lead to rupture of the capillary walls in acute
hypertension or to leukomalacia in acute hypo-
tension. In asphyxiated term newborns, the ce-
rebral blood flow is severely and persistently
reduced for several days after birth (79). This
may contribute to ischemic brain lesions that
predominate in the border or "watershed" ar-
eas between the white and the grey matter.
3) Appreciation of the quality of the fetal
circulation is difficult: meconial amniotic fluid
and acidosis are late-appearing signs that testify
to ongoing noxious effects of circulatory insuffi-
ciency. Bradycardia may be either purely reflex
or result from severe distress. Lack of response
to uterine contraction is not always a distingu-
ishing feature. Bradycardia may be absent in
cases of severe cerebral ischemia (92). These dif-
ficulties in appreciating precisely the state of the
fetal sytemic circulation explains that even se-
vere circulatory fetal disturbances may be over-
looked, the possible delay in cesarean section
or forceps delivery, and the therefore pers-
istently high incidence of pre- and perinatal neu-
rologic sequelae.
4) The appearance of the cerebral lesions is
variable, depending largely on the term of preg-
nancy at their onset. The arterial territories are
different in the fetus and the newborn, with a
progressive transition period in the third trimes-
ter. In the prematurel, meningocortical arterial
anastomoses are numerous, whereas the peri-
ventricular white matter represents a vascular
border zone. Metabolic activity in this border
zone is intense, thus increasing the risk of paren-
chymal lesion in the case of circulatory failure.
The germinal matrix in the premature baby is
richly vascularized by fragile capillaries (68); it
is located in the subependymal area around the
frontal horns for the cerebrum, and around the
fourth ventricle and in the subpial areas for the
cerebellum. Around term the meningeal anasto-
moses progressively disappear and the cerebral
cortex becomes more vulnerable.
Brain lesions of circulatory origin in the pre-
mature thus frequently have a mixed appear-
ance, with ischemic and hemorrhagic compo-
nents (45). In experimental circulatory failure
induced by prolonged partial asphyxia in the
Vascular Disorders
term newborn monkey (64), the cerebral lesions
were correlated to the severity of lactic acidosis.
They were limited to the parasagittal regions
in less severe cases, and became diffuse after
prolonged asphyxia.
5) On histologic examination, reaction of
immature nervous tissue to necrosis is excep-
tionally rapid, and consists in liquefaction and
dissolution of the necrotic tissue (88). There is
little or no proliferation of fixed elements, and
no gliosis develops around the scar, so that the
porus is lined by a thin and smooth glial layer
devoid of neurons. The capacity of the astro-
cytes to react with proliferation and hypertro-
phy appears at the end of pregnancy.
Porencephaly and hydranencephaly were
long considered as agenetic (96); however, the
results of animal experimentations (64, 65) and
histologic and topographic analysis of the brain
indicate an essentially vascular origin (25, 58).
Repeat CT examinations in personal cases fol-
lowing evolution of the cerebral lesions agree
with this hypothesis.
5.1.1 Prenatal Cerebral Lesions
of Circulatory Origin
Porencephaly
The term "porencephaly" was coined by Heschl
in 1859 (47) for large hemispheric defects with
communication between the ventricles and the
brain surface. Later, the meaning of the term
became broader, including a great variety of
hemispheric defects irrespective of the time of
onset and of the etiology. Several authors (40,
58) prefer to restrict the term of porencephaly
to circumscribed defects that have appeared in
the developmental period. Porencephalies
formed in the second trimester generally extend
across the cerebral hemisphere with communi-
cation between the ventricles and the brain sur-
face, are located in the territory of the middle
cerebral artery, are surrounded by polymicro-
gyria (25, 58), and are frequently associated
with absence of the septum pellucidum (see
Sect. 1.3). Appearance of the cerebral lesions is
Prenatal Cerebral Lesions of Circulatory Origin
thus at the borderline between early destructive
and late mal formative physiopathologic mecha-
nIsms.
Clinical expression of porencephalies de-
pends on their topography and their size. Men-
tal retardation, seizures, hemiplegia, tetraplegia,
and microcephaly are the main manifestations.
Plain skull films may show cranial asym-
metry with elevation of the petrous bone, devia-
tion of the crista galli, abnormal pneumatiza-
tion of the cranial base, and abnormal thickness
of the calvarium on the side of a unilateral por-
encephalic cyst.
On CT, porencephalic cysts formed during
the second and third trimesters generally have
a different appearance. Early porencephalic
cysts (second trimester) always go across the en-
tire thickness of the cerebral mantle (Figs. 5.2,
5.3), even when the walls of the cyst are joined
and the porus has thus become virtual (Fig. 5.3).
On CT a "virtual porus" maybe suggested on
a segmental dilatation of a lateral ventricle with
at the center, a small ventricular excrescence
perpendicular to the ventricular walls (Fig.
5.3 b), and at a distance, focal enlargement of
the pericerebral spaces. Polymicrogyric cortex
around the porus appears on CT as a cortex
of abnormal thickness and density (Fig. 5.3).
Absence of septum pellucidum was observed in
20 personal observations in association with
porencephalies (see Sect. 1.3). Late porence-
phalic cysts (third trimester and perinatal peri-
od) do not necessarily involve the entire thick-
ness of the cerebral mantle; they may be limited
to a circumscribed cortical or periventricular
area. (Figs. 5.4--5.7). They are generally asso-
ciated with homolateral or diffuse cerebral atro-
phy. CT does not reveal abnormalities of the
surrounding cortex or the septum pellucidum.
Progressive expanding porencephaly corresponds
to a porencephalic cyst communicating with the
lateral ventricle; the cyst and the lateral ventri-
cle distend progressively and may induce cranial
asymmetry. The precise mechanism of expand-
ing porencephaly remains unknown.
In a series of 15 cases (89), age at discovery
ranged from 3 months to 7 years, with a mean
of 2 years. The most frequent clinical manifesta-
187
tions were focal motor defects and pyramidal
signs (seven cases), with macrocrania in five
cases, mental retardation in three cases, and sei-
zures, strabism, and increased intracranial pres-
sure in one case each. Onset of the neurologic
troubles was progressive in two cases.
Cranial deformity, sometimes clinically ap-
parent, was best demonstrated on plain skull
films, showing focal bulging and thinning of the
vault.
CT shows marked dilatation of one lateral
ventricle with considerable thinning of a portion
of the cerebral mantle involving more than one
lobe (Fig. 5.8). The falx and the longitudinal
sinus appear to be displaced contralaterally. The
contralateral ventricle is usually enlarged
(Fig. 5.8). Recognition of this lesion is useful,
since shunt operation - especially before 2 years
of age - may lead to clear improvement of the
neurologic signs (1, 53, 89) (Fig. 5.8).
Familial porencephaly has been reported in rare
cases (13, 87) and was observed in two families
of our series. Porencephaly was associated with
absent septum in one member of one reported
family, but isolated in the other members (13);
it was always isolated in our observations. In-
heritance seems to be related to genetic suscepti-
bility for vascular obstruction in the pre- and
perinatal period.
llydranencephaly
Hydranencephaly, first described by Cruveillier
(24), corresponds to a nearly complete destruc-
tion of the cerebral hemipheres. The cerebral
hemispheres are replaced by fluid-filled bubbles.
The membrane forming the wall of the bubbles
is smooth, translucent, and contains attenuated
blood vessels, but no convolutions. Islands of
glial tissue may be observed along the inner sur-
face, but there is no ependymal layer corre-
sponding to the ventricular walls. Relative pres-
ervation of the basal ganglia and the inferior
part of the temporal and occipital lobes is fre-
quent. Polymicrogyria may be observed along
the edge of destruction in the preserved lobes.
Destruction of the basal ganglia and the mid-
brain may be observed in more severe forms
(49).
188
Etiology most often remains unknown (39),
and only in rare cases could a link be established
with abdominal trauma (38), attempted abor-
tion (49), or carbon monoxide intoxication (10).
Lesions close to hydranencephaly have been ob-
served in toxoplasmosis (4) and cytomegalic in-
clusion disease (29).
Symptoms and life expectancy depend on
the extent of brain destruction. Although death
is usual in extensive cases, survival for several
months is possible in cases with preserved basal
ganglia and midbrain. Anterior axial hypotonia
contrasting with hypertonia of the limbs, pyra-
midal signs, seizures, and absence of psychomo-
tor development are the most frequent signs.
Cranial enlargement is frequent, due to aque-
duct stenosis (23) or to modifications of the con-
vexity, preventing resorption of CSF. Transillu-
mination of the head is positive.
CT shows a normal posterior fossa, the per-
sisting basal ganglia and the large "bubbles"
of CSF density corresponding to the cerebral
hemispheres and separated by an intact falx
(Fig. 5.9).
Multicystic Encephalomalacia
Multicystic encephalomalacia is characterized
by multiple cysts in the greater part of the two
cerebral hemispheres. The cavities predominate
in the external white matter and the internal
cortical layers; they are separated from each
other by glial tissue. The territories of the anteri-
or and middle cerebral arteries are most com-
monly involved, and the brain stem, the cerebel-
lum, and the basal ganglia are usually spared.
Convolutions and ventricular walls appear in-
tact on gross examination.
Various causes of multicystic encephaloma-
lacia have been reported: twin pregnancy (2,
19, 20, 56), asphyxia or hypovolemia in the
mother, fetomaternal transfusion, fetal genetic
hemolytic anemia (12), severe anaphylactic reac-
tion of the mother (34), and" illegitimacy" (25).
Intrauterine death and maceration of one
twin may induce lesions such as placental in-
farcts (97), diffuse ischemic brain lesions, and
renal thrombosis (63) in the other twin. The pre-
cise frequency of these lesions remains un-
Vascular Disorders
known, because a fetus papyraceus may go un-
detected and the brain damage may occur in
an apparently" single" birth. Placental vascular
anastomoses (14) are likely to have an impor-
tant role; they may cause fetofetal or fetomater-
nal transfusion (2, 74) and lead to severe lesions
in one of the two fetuses. Diffuse intravascular
coagulation with diffuse and multiple thrombo-
sis (14,63) is probably secondary to maceration
of one twin fetus with release of tissular throm-
boplastin.
The brain lesions observed may correspond
to hydranencephaly, severe and diffuse atrophy,
or (most often) to multicystic encephalomalacia.
In eight personal observations - seven sets
of twins and one set of triplets - death of the
macerated twin was noted at any time after
4 months of gestation, and the date of delivery
ranged from 30 to 40 weeks. The child appeared
normal at birth in half the cases, required as-
sisted ventilation in the other cases. No child
had neonatal seizures. Microcephaly, tetraple-
gia, and other severe neurologic disturbances
were noted in all cases in the first months of
life.
CT in the first week (four cases) showed dif-
fuse cerebral atrophy and multiple intracerebral
cysts characteristic of multicystic encephaloma-
lacia with no apparent evolution on follow-up
scans, thus suggesting prenatal cerebral lesions
(Figs. 5.10-5.12).
5.1.2 Perinatal Cerebral Lesions
of Circulatory Origin
5.1.2.1 Predominantly Ischemic Lesions
Diffuse Cerebral Ischemia
Diffuse cerebral ischemia is observed in severe
perinatal circulatory diturbances. Massive cere-
bral infarcts lead to severe edema, increased in-
tracranial pressure, and thus further aggrava-
tion of the defective cerebral circulation and of
the cerebral lesions. Evolution to liquefaction
and resorption of the ischemic areas is particu-
larly rapid in the neonatal period.
Whether the circulatory disturbance occurs
in the last days and hours of pregnancy or dur-
Perinatal Cerebral Lesions of Circulatory Origin
ing delivery, severe clinical troubles are general-
ly present at birth, including respiratory dis-
tress, irregularities of the cardiac rhythm, severe
acidosis, and axial hypotonia, contrasting with
hypertonia of the limbs. Seizures appear in the
first hours of life, generally before 24 h. EEG
is always abnormal, showing inactive or parox-
ystic tracing (32). The fontanelle is frequently
tense or even bulging over a period of several
days. CSF shows increased proteins. These dis-
turbances are transitory and disappear after sev-
eral days, and for a short period the infant may
be considered as apparently normal; however,
at the age of 2~3 months absence of mental de-
velopment, tetraparesis, and microcephaly be-
come manifest. Death may occur in the neonatal
period, but survival for several years is possible
in less severe cases.
In a personal series of 24 cases, diffuse cere-
bral ischemia was due to perpartum anoxia in
11 cases (complicated labor, eclampsia, etc.),
maternofetal infection in two cases, and compli-
cated twin pregnancy in 11 cases. Of the twin
pregnancies, both twins showed acute distress
with death of one and survival with severe neu-
rologic sequelae of the other in five cases; one
twin was macerated and the other showed signs
of diffuse neonatal cerebral ischemia in four
cases; and one twin was normal but the other
showed acute neonatal distress due to perpar-
tum anoxia (transverse presentation, delayed
birth) in two cases. Delivery in these 24 cases
ranged between 30 and 43 weeks (mean
38 weeks).
Ultrasonography may show a heterogeneous
structure of the brain parenchyma when isch-
emia is associated with intracerebral hemor-
rhages (22, 45), but it may remain normal in
rare cases.
The CT appearance of perinatal diffuse cere-
bral ischemia varies rapidly in the first weeks
of life. In the first 10 days of life the cerebral
parenchyma presents a diffuse edematous den-
sity, contrasting with a cerebellar parenchyma
of normal density. The lateral ventricles are
compressed, nearly invisible (Figs. 5.13, 5.14).
After 2 weeks of life the lateral ventricles pro-
gressively enlarge. At the age of 3-4 weeks cav-
itation becomes apparent, and at the age of
189
2 months the CT appearance is characteristic
of multicystic encephalomalacia in most cases
(Figs. 5.13, 5.14) similar to encephalomalacia of
prenatal origin.
Brain Stem Ischemia
Ischemic lesions due to perinatal anoxia may
predominate in the brain stem with involvement
of the reticular formation (87) or of the mid-
brain and the tectal region (90) and thus cause
an uni- or bilateral Moebius syndrome.
Ischemic lesions of the midbrain are usually
small, and only large lesions may be detected
on CT, as in a personal observation of "ac-
quired" Moebius syndrome (Fig. 5.15).
Ischemia of the Basal Ganglia
Status marmoratus corresponds to ischemic l~­
sions in the basal ganglia due to pernatal as-
phyxia. The lesions predominate in the lenticu-
lar, caudate, and thalamic nuclei and are asso-
ciated in 60% to ulegyria (18, 59). Histologic
examination shows neuronal loss, gliosis, and
hypermyelination. Infants with status marmora-
tus most often present axial hypotonia and dys-
tonia of the limbs. Athetosis generally appears
only in childhood. Intelligence may remain nor-
mal, but is often borderline. CT is usually nor-
mal or shows moderate cerebral atrophy.
Thalamic degeneration was described in five pa-
tients with selective thalamic lesions, comprising
severe neuronal loss, astrogliosis, and mineral-
ization of neurons (5, 70, 78). In one case, pre-
natal trauma at 32 weeks of gestation was noted
(70).
Lesions predominating in the basal ganglia were
noted in six patients of our series who had suf-
fered severe prenatal asphyxia.
Neurologic sequelae comprised tetraparesis,
axial hypotonia, dystonia of the limbs, and se-
vere mental retardation.
CT in the first week showed edematous areas
alternating with hemorrhagic foci in the basal
ganglia region, compression of the third and lat-
eral ventricles (Figs. 5.16, 5.17). On follow-up
scans, these lesions most often progressively
changed into small, grossly symmetrical poren-
190
cephalic cysts in the basal ganglia (Figs. 5.16-
5.18), sometimes so small as to be difficult to
detect.
Focal Hemispheric Ischemic Lesions
Parasagittal cerebral injury (93) is characterized
by necrosis of the cortex and the adjacent white
matter. The lesions are generally bilateral, but
may be clearly asymmetrical, and are located
at the border of the anterior and middle cerebral
artery territories. The clinical manifestations re-
main imprecise (93); they usually include mental
retardation, spasticity, and generalized seizures.
CT discloses atrophy of both cerebral hemi-
spheres predominating in the frontal lobes with
enlargement of the frontal horns.
Focal hemispheric ischemic lesions are one of the
more frequent etiologies of neonatal seizures,
and they present a characteristic clinical pattern
(11, 15, 17, 60, 61). A review of 30 personal
cases revealed that 26 infants were born at 38-
41 weeks and only four prematurely. The mean
birthweight was 3160 g. Generally, the patients
showed no or only moderate neonatal distress;
the Apgar score at 5 min was over 7 in 29 cases.
Eight infants required brief resuscitation.
Seizures appeared at between 8 and 72 h of
life. They corresponded to brief and repeated
cloni, always located in the same group of mus-
cles. Twenty-four infants developed status epi-
lepticus, which lasted over 24 h in 15 cases.
EEG showed ictal discharges in all cases, not
necessarily correlated to clinical seizures. Inter-
ictal EEG was always abnormal (17), with
asymmetry of the basal rhythm and focal spikes.
Usually the infants presented no interictal focal
motor defect and no diminution of conscious-
ness or feeding problems, but episodes of apnea,
cyanosis, and chewing movements were ob-
served in half the cases.
Ultrasonography may reveal hemorrhagic
infarcts (60), but is relatively unreliable in detec-
tion of small nonhemorrhagic ischemic lesions.
CT in the first week shows an area of edema-
tous density with ill-defined limits; when large,
the edematous area may have a mass effect
(Fig. 5.19). Hemorrhages within the ischemic
area were rare: three of our 30 personal cases.
Vascular Disorders
Multiple ischemic lesions were observed in only
two cases. In 21 cases the ischemia was located
in the left cerebral hemisphere, in nine cases in
the right hemiphere. The sylvian region - in as-
much as the ischemic lesions are due to arterial
obstruction - was most frequently involved.
On follow-up CT the density of the ischemic
lesions progressively decreased to CSF density
in about a month; simultaneously, the apparent
size of the lesion diminished (Fig. 5.19). Con-
trast enhancement of various intensity was ob-
served in several cases, but it was of no diagnos-
tic or prognostic value in our experience. Large
ischemic lesions were later nearly always asso-
ciated with enlargement of the homolateral ven-
tricle and to unilateral cranial hypotrophy.
Neurologic sequelae depended on the size
and location of the ischemic lesion. The majori-
ty of the children later presented infantile he-
miplegia, but some children with temporoparie-
tal lesions showed no apparent neurologic se-
quelae.
Distribution and appearance of the ischemic
lesions seems to rule out an embolic origin in
most cases. It is probable that the lesions are
secondary to arterial (11,94) or venous (94) ob-
struction, as may be observed in asphyxia, re-
duction of cerebral blood flow, or diffuse intra-
vascular coagulation (11), though in most cases
of focal neonatal hemispheric ischemic lesions
there is no suspicion of perinatal injury.
In some instances focal cerebral ischemia
may be associated with subarachnoid hemor-
rhage (35, 54).
Leukomalacia
Leukomalacia corresponds to ischemic lesions
around the lateral ventricles, in the border zone
between the superficial and deep branches of
the middle cerebral artery (9). The initial coagu-
lation necrosis is followed by microglial and as-
trocytic proliferation. Depending on the size of
the initial lesion, the neuropathologic sequelae
may consist in either an area of gliosis that may
be prolonged like a star in the axis of the gyri,
or a loss of brain substance with cavitation
around the lateral ventricles which may show
focal enlargement (9,5). The lesions may pre-
Perinatal Cerebral Lesions of Circulatory Origin
dominate around the foramen of Monro or in
the acoustic and optic radiations (86).
Leukomalacia is observed essentially in pre-
mature infants with cardiorespiratoy distur-
bances. It was observed in 88% of a series of
highrisk infants (86), and is particularly fre-
quent in infants with a birth weight below
2200 g. It may be observed in term infants with
congenital heart disease (9).
Clinical manifestations are generally absent
during the neonatal period. The most frequent
long-term sequela of periventricular leukomala-
cia is spastic diplegia of the lower limbs with
normal intelligence and absence of seizures or
Little's syndrome. More extensive lesions are as-
sociated with spastic tetraparesis, intellectual
deficit, visual dysfunction with strabismus, lan-
guage dysfunction (27), and sometimes seizures.
Ultrasonography is unreliable in detection
ofleukomalacia during the neonatal period (22).
CT during the neonatal period most often
fails to demonstrate leukomalacia because of
the usual spontaneously edematous appearance
of the white matter due to incomplete myelina-
tion in the premature infant and the term new-
born.
At the stage of sequelae, small lesions gener-
ally remain invisible on CT. Larger lesions,
especially in Little's syndrome, are associated
with focal enlargement of the lateral ventricles
(Figs. 5.20-5.22). In extensive lesions, the lateral
ventricles are clearly enlarged and show irregu-
lar contours (Fig. 22), and the periventricular
white matter has an edematous density; some-
times small cavities of CSF density may be de-
tected within the abnormal areas of the white
matter (81) (Figs. 5.21, 5.22).
5.1.2.2 Predominantly Hemorrhagic Lesions
Intraventricular Hemorrhage
in the Prematurely Born Child
Intraventricular and periventricular hemor-
rhage is the most frequent and severe complica-
tion of prematurity. The basic lesion consists
of bleeding in the subependymal germinal ma-
191
trix. Arterial supply to this area is particularly
abundant until 32 weeks of gestation, and there
is a rich network of immature and fragile capil-
laries. Furthermore, in the same area, the direc-
tion of the venous blood flow changes in a U-
turn. The hemorrhage originates mostly from
capillaries, not from larger vessels as previously
believed (44). The site of the periventricular
hemorrhage is usually in the matrix at the level
of the head of the caudate nucleus; occasionally
it may be in the matrix lateral to the occipital
or temporal horns. The hemorrhage ruptures
into the lateral ventricles and collects in the occi-
pital horns, the fourth ventricle, and the cisterna
magna. Associated intraparenchymal hema-
toma is of particularly severe significance (80)
(Fig. 5.29). The latter seems to be associated
with, and secondary to, preexisting leukomala-
cia (91). It is usually located in the frontal and
occipital lobes, and later develops to periventri-
cular porencephalies. Intraventricular blood
clots may lead to obstruction of CSF flow, ini-
tially frequent at the level of the aqueduct, later
by blockage of the posterior fossa cisternae (50).
Among the pathogenetic factors, failure of
vascular autoregulation favored by asphyxia,
seems to be predominant (57). Elevation of arte-
rial blood pressure and cerebral blood flow is
marked and immediate in apnea, hypercapnia,
and seizures. Fluctuating cerebral blood flow,
as measured by the Doppler technique thus indi-
cates a high risk for intraventricular hemor-
rhage (71). Increased venous pressure by as-
phyxia and cardiac failure, and endothelial in-
jury by asphyxia, may contribute to increasing
the risk of hemorrhage.
Two clinical syndromes may be observed in
intraventricular hemorrhage (92). The catas-
trophic syndrome includes coma, respiratory
distress, "decerebrate" posture, lack of re-
sponse of eyes and pupils to stimulation, and
flaccid quadriparesis. The saltatory syndrome
is marked by alteration of consciousness and
spontaneous mobility, hypotonia, and subtle
aberration of eye position. Decrease of the he-
matocrit coincides with the hemorrhage, lumbar
puncture discloses initially hemorrhagic CSF
with increased proteins, later xanthochromic
CSF and decreased sugar content (28).
192
In cases complicated by hydrocephalus, the
first clinical signs are exaggerated growth of
head circumference, full anterior fontanelle, and
the sunset sign. These signs, however, usually
only appear weeks after the onset of ventricular
dilatation, which may begin in the days follow-
ing the hemorrhage as shown by CT (92) and
ultrasonography (22).
Ultrasonography, because of its ease of use,
the absence of radiation (allowing repeat exami-
nations), and not least its results, is currently
the best examination for detection and follow-
up of intraventricular hemorrhage of the prema-
ture child, and has largely replaced CT. The
subependymal hemorrhage initially appears as
a round, echogenic mass bulging into the frontal
horns (7,80) (Figs. 5.23, 5.24). Within a few
days, its center becomes hypoechogenic. Later
the hemorrhagic mass may disappear and have
no apparent long-term clinical counterpart (22).
Intraventricular hemorrhage initially appears as
an echogenic intraventricular structure, particu-
larly visible when partial or unilateral. Later,
the intraventricular clot has an hypoechogenic
center and is fixed to the choroid plexus, where-
as the ventricular walls become more and more
echogenic. An associate intracerebral hema-
toma is observed in 15% of premature infants
born at less than 32 weeks of gestation (42), and
in all cases a porencephaly forms after, generally
communicating with the lateral ventricle (84).
CT demonstrates subependymal hemor-
rhage as a spontaneously dense mass bulging
into the lateral ventricle (Figs. 5.26-5.28). Den-
sity of the hematoma rapidly decreases, and a
small hematoma may become undetectable after
a few days. Intraventricular hemorrhage, when
marked, gives hematoma density to the entire
ventricular system, which frequently shows pre-
cocious dilatation (Fig. 5.28). In less marked in-
traventricular hemorrhage, the blood or blood
clots sediment to the basal cisterns, the fourth
ventricle and the occipital horns (Figs. 5.25,
5.26). Slight intraventricular hemorrhage may
go undetected on CT. CT is less sensitive than
ultrasonography for the detection of small sub-
ependymal and intracerebral hematomas (37),
but gives better information on associated
ischemic lesions.
Vascular Disorders
The outcome depends on gestational age at
birth and on the extent of intracranial hemor-
rhage (92). Hydrocephalus develops in 18% of
the premature infants of less than 32 weeks of
gestation (22), and appears in 65% of the in-
fants with intraventricular hemorrhage filling
more than half the ventricular volume on CT
(92). However, ventricular dilatation is usually
transient (3) and rarely evolves to hydrocepha-
lus requiring shunting. The risk of neurologic
sequelae is related to the extension of the hem-
orrhage (69), and the association with porence-
phalies (3) and ischemic lesions (see section on
leukomalacia above, p. 190). Death occurs in
10% of the cases of intraventricular hemorrhage
occupying less than 50% of the ventricular vol-
ume, and in over 50% of the cases of more
extensive intraventricular hemorrhage (92);
mortality is also clearly correlated with intr,acra-
nial pressure and cerebral pulsatile flow (8).
Intraventricular Hemorrhage
of the Term Newborn
Intraventricular hemorrhage in the term new-
born has been reported in over 40 cases in the
literature (35, 83). In numerous observations
there was a history of perpartum asphyxia, me-
chanical birth trauma, such as breech delivery
(35), coagulation abnormalities, and infection.
The hemorrhage most often originates from the
choroidal veins (31), sometimes from the ger-
minal matrix (48), or both.
The clinical manifestations generally consist
of sudden deterioration of the clinical status
with dyspnea, opisthotonos, vomiting, and sei-
zures, this between 1 and 4 days of life, some-
times later (83).
CT discloses the intraventricular hemor-
rhage and sometimes the hematoma within the
choroidal plexus.
Posterior Fossa Hematoma of the Newborn
Posterior fossa hematoma in the newborn may
be located in the cerebellum (77), in the pericere-
bellar cisterns, or frequently in both. It is ob-
served in 16%-21 % of autopsy studies in the
premature (43, 62), but infrequently in term in-
Cerebral Sequelae of Prenatal and Perinatal Circulatory Brain Lesions with Delayed Clinical Manifestations
fants (16, 33, 46). In the premature it is often
related to hypoxia, asphyxia, and impaired vas-
cular autoregulation, in the term newborn to
skull molding by breech presentation (85) and
forceps delivery (46) (eight personal cases).
In cerebellar hemorrhage the bleeding origi-
nates from the germinal matrix in the subepen-
dymal and subpial layers (30). Hemorrhage into
the fourth ventricle with obstruction of the fora-
mina of Magendie and Luschka is frequent (67).
In hematomas located in the pericerebellar
cisterns the main cause of bleeding is rupture
of tentorial veins (proven in three personal
cases).
Clinical signs in the premature correspond
most often to those of severe intraventricular
hemorrhage. In the term infant the symptoms
most often lack specificity; they may include
irregularity of respiratory rhythm, cranial nerve
- especially oculomotor - palsies, hypotonia, in-
creased intracranial pressure with bulging fon-
tanelle and excessive growth of head circumfer-
ence, decrease of hematocrit, and hemorrhagic
CSF.
Ultrasonography may reveal the hematoma
(73), but is unreliable in most cases (22).
On CT the hematoma appears as a dense
mass within the cerebellum or the pericerebellar
cisterns (Figs. 5.30-5.32). Dilatation of the lat-
eral ventricles is precocious (77) (ten personal
cases).
Operation may lead to immediate improve-
ment of the clinical presentation in the cases
of cerebellar and pericerebellar hematomas of
term infants. Prognosis is reserved in intracere-
bellar hematomas of the premature.
5.1.3 Cerebral Sequelae of Prenatal and
Perinatal Circulatory Brain Lesions
with Delayed Clinical Manifestations
Various neurologic manifestations, including
focal motor or visual deficit, epilepsy, and men-
tal retardation, may be discovered during the
first months or years of life, and neuroradio-
logic examinations may relate them to focal ce-
rebral lesions, though there is no evidence of
an acute postnatal event. In these cases, a pre-
193
or perinatal vascular cerebral lesion represents
the most probable diagnosis. Since most of these
children survive into adult life, usually no neu-
ropathologic study is performed. Although the
term "porencephaly" is a restricted anatomo-
pathologic term, for practical reasons it will be
used below more widely, in a purely radioclini-
cal sense.
Congenital Infantile Hemiplegia
The term "congenital hemiplegia" designates
hemiplegia usually discovered in the first
months of life when the child develops volun-
tary prehension. The parents notice that the
spontaneous movements are asymmetrical and
that the upper limb of the abnormal side is fixed
in flexion and pronation with permanent flexion
of the fingers and adduction of the thumb.
Walking problems are less frequently the first
sign. In contrast to acute hemiplegia, facial
asymmetry is rarely marked (41).
In a personal series of 169 observations with
clinical and neuroradiologic examination there
was a slight male predominance (59%). The first
symptoms were noted at ages ranging from 2
to 20 months (mean 5.8 months). The children
held their head upright at a mean age of
4.3 months and prehension was acquired at
5 months. They first walked at 9-36 months
(mean 17.5 months). The hemiplegia involved
the left side in 60% of the cases. Various abnor-
malities were associated: strabismus (22%), as-
tereognosia (18%), hemianopsia (14%), epilep-
sy (25%), mental retardation (20%), and cranial
asymmetry (10%). Epilepsy was associated in
half the cases with mental retardation and most
often appeared before the 2nd year.
CT findings in congenital infantile hemiple-
gia are variable:
a) CT was considered normal in 17 cases (10%).
In four of these cases hemiplegia was asso-
ciated with epilepsy, in three with mental re-
tardation.
b) A porencephaly involving only the periven-
tricular white matter without clear ventricu-
lar enlargement was noted in 35 children
(20%), of whom one child had epilepsy and
none had mental retardation.
194
c) A porencephaly involving only the periven-
tricular white matter with ventricular en-
largement (Fig. 5.6) was noted in 38 cases
(22 %), accompanied by epilepsy in nine cases
and mental retardation in three cases.
d) A porencephaly with cortical involvement
but without ventricular dilatation was ob-
served in five cases (3%) and was associated
with epilepsy in three cases, but in no case
with mental retardation.
e) A porencephaly with cortical involvement
and ventricular dilatation (Figs. 5.4, 5.5) was
observed in 48 patients (29%), of whom
29 had epilepsy and 12 had severe mental re-
tardation. Epilepsy included infantile spasms
(22%), secondary generalized seizures (60%),
startle seizures (12%), and status epilepticus
(6%).
f) A progressive expanding porencephaly ob-
served in three cases was associated with ho-
molateral cranial enlargement with thinning
of the vault.
g) Focal cortical atrophy with unilateral ven-
tricular enlargement existed in eight cases
(5%); in four of these, the patients presented
epilepsy and mental retardation.
h) Porencephaly with septal dysplasia was ob-
served in 12 cases (7%), associated in seven
of them with epilepsy and severe mental re-
tardation (see Chap. 1).
i) Agenesis of the corpus callosum with unilat-
eral hemispheric hypoplasia was noted in
three cases, always associated with epilepsy
(see Sect. 1.1).
Remillard's Syndrome
Remillard's syndrome is characterized by the
constellation of partial complex seizures, he-
mianopsia, and temporooccipital porencephaly
(26, 75, 76). The seizures usually appear in child-
hood and adolescence, rarely in the first year
of life. They variously associate visual, elemen-
tary motor, and complex automatic manifesta-
tions; rupture of contact is noted in all cases.
EEG reveals symmetrical background activity;
a clear posterior focus of slow activity is present
in over half the cases. Perinatal brain injury,
as expressed by impairment of consciousness or
Vascular Disorders
seizures, may be found in over half the cases
(26). The location of the ischemic lesion may
suggest obstruction of the posterior cerebral ar-
tery or of its various branches (75).
CT discloses a unilateral porencephalic cyst
located in the occipital, posterior temporal, or
parietal region. In rare cases the cerebral poren-
cephaly may be associated with a cerebellar por-
encephaly.
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Prenatal and Perinatal Cerebral Lesions of Circulatory Origin
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Fig. 5.1 a-g. A 2-day-old hypotrophic girl (birthweight
2520 g). Pregnancy uneventful. At birth: diffuse pete-
chial and ecchymotic purpura (6000 platelets/mm 3 ), ane-
mia (2,63 RBC/mm 3 ), and frequent episodes of respira-
tory arrests. Serology of antiplatelet Ac (direct Coombs
test) and of anti-HLA Ac is clearly positive. CT without
contrast enhancement (a-d): large porencephalic cavity
in the right frontotemporal region. The cavity has a thin
hemorrhagic border. Hemorrhage within the cavity has
sedimented, showing a horizontal superior level moving
197
93. Volpe JJ, Pasternak JF (1977) Parasagittal injury
in neonatal hypoxic-ischemic encephalopathy: clini-
cal and neuroradiologic features. J Pediatr
91: 472--476
94. Voorhies TM, Lipper EG, Lee BCP et al. (1984)
Occlusive vascular disease in asphyxiated newborn
infants. J Pediatr 105: 92-96
95. Ward TF (1977) Multiple thromboses in an infant
of a diabetic mother. J Pediatr 90: 982-984
96. Yakovlev PI, Wadsworth RC (1946) Schizencepha-
lies: A study of the congenital clefts of the cerebral
mantle. J N europathol Exp N eurol 5: 116-130,
169-206
97. Yoshioka H, Kadomoto Y, Mino M et al. (1979)
Multicystic encephalomalacia in liveborn twin with
a stillborn macerated twin. J Pediatr 95: 798-800
with head position (b). Mass effect is marked, as shown
by the displacement and the compression of the right
lateral ventricle. At the age of 10 months: normal devel-
opment, normal neurologic examination. CT (e-g): re-
sidual porencephalic cyst of the right temporal region.
In this case the porencephalic cyst is manifestly antena-
tal. Neurologic outcome appears favorable in this child,
in contrast to three other personal observations where
cerebral lesions have led to infantile spasms and severe
mental retardation
198
Fig. 5.3 a-c. A 9-month-old girl with severe hypotrophy
at birth. She now presents with microcephaly, spastic
tetraparesis, and severe mental retardation. CT: sym-
metrical dilatation of the frontal horns presenting a
wedge-shaped lateral excrescence (b), focal enlargement
Vascular Disorders
Fig. 5.2 a, b. A 5-month-old boy with slight psychomotor
retardation and partial seizures. CT: porus with commu-
nication between the trigone of the left lateral ventricle
and the pericerebral spaces of the left temporal region.
Asymmetrical dilatation of the left lateral ventricle. The
septum is ruptured in its central part
of the adjacent pericerebral spaces, and thickening and
increase of density of the adjacent cortex (c). Manifestly.
there are bilateral frontal pori with adjacent cortical ab-
normalities
Fig. 5.4 a, b. An 11-month-old boy. Pregnancy, birth,
and early infancy were uneventful. At the age of 7
months, discovery of right hemiparesis. At 9 months:
focal motor seizures, slight mental retardation. CT: left
cranial and cerebral atrophy, large porencephalic cyst
in the territory of the middle cerebral artery. The cyst
remains separated from the dilated left lateral ventricle
by a thin ependymal wall
Prenatal and Perinatal Cerebral Lesions of Circulatory Origin 199

Fig. 5.5 a, b. A 16-month-old boy with right hemiparesis,

focal motor seizures and slight mental retardation. His-
tory is uneventful. CT: left cranial and cerebral hemia-
trophy, multiple small porencephalic cysts in the left syl-
vian region

Fig. 5.6 a-c. A 13-month-old boy; left hemiparesis dis- matter around the right frontal horn without cortical
covered at the age of 7 months, normal development. lesions, moderate dilatation of the lateral ventricles
Uneventful history. CT: porencephalic cyst in the white

Fig. 5.7 a-c. A 4-month-old girl. Uneventful anamnesis. phalic cysts in the frontal and frontoparietal white mat-
Absence of mental development, axial hypotonia, tetra- ter on the right and left side respectively. Adjacent cortex
paresis, and bilateral pyramidal signs. CT: pore nce- is markedly thinned
200
Fig. 5.9 a--c. A 5-day-old girl. Twin pregnancy with ma-
ceration of the second twin in the 4th month, birth at
8 months. Head circumference +2 S.D. with positive
transillumination in the entire supratentorial region; ax-
ial hypotonia contrasting with hypertonia of the limbs.
Vascular Disorders
Fig. 5.8 a-f. A 3-year-old girl with asymmetrical macro-
crania, slight mental retardation, and homonymous lat-
eral hemianopsia. Recent aggravation of the neurologic
disturbances and onset of left hemiparesis. CT (a-d):
large expanding porencephalic cyst of the right temporo-
parietooccipital region with marked mass effect, calvar-
ial thinning, and dilatation of the contralateral ventricle.
Note: frontal views with inversion of left and right; a is
the most anterior and d the most posterior view). Punc-
ture of the cyst has established communication between
the cyst and the pericerebral spaces. CT at the age of
6 years (e-t): ventricular dilatation and midline shift
have diminished; the size of the cyst has regressed; dila-
tation of the right pericerebral spaces. At the age of
6 years head circumference is stable, left hemiparesis
has disappeared, and mental retardation seems less
marked
CT: small posterior fossa with undetectable fourth ven-
tricle, cerebral hemispheres replaced by large cavities of
CSF density, only posterior portions of the thalami ap-
pear conserved (b), falx is intact
Prenatal and Perinatal Cerebral Lesions of Circulatory Origin 201

Fig. 5.10 a-d. A 4-month-old boy with microcephaly, I>

spastic tetraparesis, absence of mental development. The
mother had a severe anaphylactic reaction of unknown
origin in the 6th month of pregnancy. Delivery and
neonatal period were uneventful. CT: multicystic ence-
phalomalacia with numerous cysts of CSF density in
the white matter and in the subcortical regions, displac-
ing the ventricles centrally

Fig. 5.11 a--c. A 5-month-old girl. Twin pregnancy with

maceration of the second twin around the 7th month,
delivery at 8 months; neonatal period uneventful. At
5 months she presents microcephaly, severe mental retar-
dation, axial hypotonia, and tetraparesis. CT: multicys-
tic encephalomalacia predominating in the posterior half
of the cerebral hemispheres

Fig. 5.12 a--c. A 2-day-old girl. Twin pregnancy with weighs 1820 g; at birth she is hypotonic, lacks spontane-
death of the second twin 3 days before delivery. The ous respiration and movements. CT already shows small
dead twin weighs 2000 g, is anasarcous. Multiple placen- multiple cysts in the right rolandic region and the left
tal anastomoses between the twins. The living twin temporoparietooccipital region (a--c)
202
Fig. 5.13 a-f. A 2-day-old girl; pregnancy uneventful;
delivery at term, long and traumatic; the first Apgar
scores are 4,4, and 3. At 2 h after delivery, respiratory
arrest and seizures render ventilatory assistance neces-
sary. CT with contrast enhancement (a-c): edematous
appearance of the cerebral hemispheres (in contrast to
normal density of cerebellum); dense bands of enhance-
ment perpendicular to the calvarium; compression of
the ventricles. CT appearance suggests diagnosis of dif-
Vascular Disorders
fuse hemispheric ischemia. At the age of 5 months: se-
vere convulsive encephalopathy with axial hypotonia,
hypertonia of the limbs, absence of psychomotor devel-
opment. CT (d-f): multicystic encephalomalacia, nearly
complete destruction of the cerebral hemispheres, only
thin bands of cerebral tissue persisting around the syl-
vian fissure (d, e). The basal ganglia are relatively pre-
served, the lateral ventricles are enlarged, as shown by
the preserved ependymal lining
Prenatal and Perinatal Cerebral Lesions of Circulatory Origin 203

Fig. 5.14 a-f. A 5-day-old boy. Twin pregnancy with
complicated delivery (transverse presentation of the sec-
ond twin). The first Apgar scores are 3,3, and 4. At
1 h: seizures and respiratory problems. CT with contrast
enhancement (a--c): edematous appearance of the cere-
bral hemipheres when compared to the normal density
of the cerebellum and the basal ganglia; compression
of the lateral ventricles; contrast enhancement in the
cortical regions. At 5 months: absence of mental devel-
opment, microcrania, axial hypotonia contrasting with
hypertonia of the limbs. CT -Scan (d-f): multicystic ence-
phalomalacia with numerous cysts in the cerebral hemi-
spheres, central displacement of the small lateral ventri-
cles; relative preservation of the basal ganglia; ischemic
lesion of the left cerebellar hemisphere (d)
204
Fig. 5.15 a-f. A 2-week-old boy. Pregnancy and delivery
uneventful; at the age of 5 days the infant transiently
becomes less reactive and presents definite unilateral
ophthalmoplegia. CT with contrast enhancement (a-c):
small area of edematous density in the right and anterior
Vascular Disorders
part of the cerebral peduncles and in the right subtha-
lamic region. At the age of 5 months the boy presents
normal development and definite unilateral ophthal-
moplegia. CT: (d-t): residual porencephaly. (e--t) which
appears larger than on previous examination
Fig. 5.16 a-d. A 2-day-old girl. Prolapse of the cord
renders necessary secondary cesarean section. Patient
presents axial hypotonia, hypertonia and incessant tre-
mulations of the limbs. CT without contrast enhance-
ment (a, b): grossly symmetrical lesions of edematous
and hemorrhagic density in the basal ganglia region;
abnormally edematous density of the white matter; com-
pression of the lateral ventricles. At the age of 6 months
psychomotor development is only slightly retarded;
spasticity of the limbs with pyramidal signs. CT (c, d):
moderate cerebral atrophy; the only still detectable ab-
normality in the basal ganglia region consists in small,
symmetrical calcifications
Prenatal and Perinatal Cerebral Lesions of Circulatory Origin
Fig. 5.17 a-f. A 2-week-old boy. Uneventful pregnancy,
dystocic delivery with prolonged asphyxia (birth weight
4680 g) . Cardiorespiratory arrest lasting 2 min, mydria-
sis for 20 min. In the first days the infant presents axial
hypotonia, hypertonia of the limbs, and frequent spasms
in extension. CT-scan (a-e) : grossly symmetrical areas
of edematous and slightly hemorrhagic density in the
Fig. 5.18 a-e. A iO-month-old girl. Twin pregnancy with
dystocic presentation of the second twin, rendering nec-
essary cesarean delivery of this child. CT: symmetrically
205
region of the basal ganglia and the adjacent white mat-
ter. At 6 months : absence of psychomotor development,
microcephaly, hypertonia of the limbs, marked pyrami-
dal signs. CT (d-f) : cerebral atrophy; the basal ganglia
region shows slight increase in density and small poren-
cephalic cysts
increased density of the basal ganglia, which have, in
the center, a small area of edematous density ; porence-
phalic cysts in the adjacent white matter
206 Vascular Disorders

<l Fig. 5.19 a-d. A 5-day-old boy with uneventful pregnan-

cy and delivery. From the 2nd to the 4th day, frequent
motor seizures with cloni in the left upper limb and
troubles of consciousness. EEG demonstrates a lesion
in the right sylvian region. CT (a-b): Large zone of
edematous density in the territory of the right middle
cerebral artery. At the age of 5 months: left hemiparesis,
normal development. CT: (c d): residual porencephalic
cyst in the right sylvian region

Fig. 5.20 a-f. A 1-month-old premature boy (born at

34 weeks, birthweight 1800 g). Moderate hyaline mem-
brane disease, frequent respiratory pauses in the neona-
tal period. CT (a-c): the edematous appearance of the
white matter is abnormally marked for the age of the
infant. At the age of 8 months he presents slight mental
retardation and spastic diplegia. CT (d-f): the lateral
ventricles are moderately enlarged and have irregular
contours suggestive of periventricular leukomalacia
\l
Prenatal and Perinatal Cerebral Lesions of Circulatory Origin 207

L.
Fig. 5.21 a-f. A I-month-old boy with large interventri-
cular cardiac shunt, frequent syncopes, axial hypotonia.
CT (a--c): abnormally marked edematous appearance of
the white matter in the frontal lobes. At the age of 12
months: spastic diplegia, normal mental development.
CT (e--f): moderate enlargement of the lateral ventricles,
edematous appearance of the white matter in the ro-
landic regions, and focal atrophy in the region of the
paracentral lobules (f)

Fig. 5.22 a-d. A 2-year-old boy. History of prematurity [>

(birthweight 1050 g) and severe neonatal neurologic
problems, including subependymal hemorrhage. He now
shows spastic tetraparesis, mental retardation, and mi-
crocephaly. CT: marked ventricular dilatation with ir-
regular borders of the lateral ventricles, suggesting ex-
tensive periventricular leukomalacia
208
Fig. 5.23 a, b. A 3-day-old premature infant (born at
32 weeks, birthweight 1640 g). Frequent episodes of ap-
nea, hemorrhagic CSF. Ultrasonography: bilateral sub-
ependymal hemorrhage in the frontal germinal matrix
prolonged posteriorly to the floor of the body of the
lateral ventricles (a sagittal view; b frontal view)
Fig. 5.26 a-c. A 10-day-old premature infant (born at
34 weeks, birthweight 1900 g). History of subarachnoid
hemorrhage on about the 2nd-3rd day of life. CT: sub-
ependymal hematomas around the frontal horns (b, c),
Vascular Disorders
Fig. 5.24 a, b. A 2-day-old premature infant (born at
31 weeks, birthweight 1400 g). On the 2nd day: diminu-
tion of consciousness, hypotonia. Ultrasonography
(a sagittal; b frontal): subependymal hemorrhage in the
frontal germinal matrix without ventricular dilatation
Fig. 5.25 a, b. An 8-day-old premature infant (born at
28 weeks, birthweight 1060 g). Hyaline membrane dis-
ease stage II. On day 2: diminution of consciousness
and decrease of hemoglobin from 14 to 9 g/100 ml; CSF
is hemorrhagic. CT: blood has sedimented in the occipi-
tal horns (a), origin of the hemorrhage is no longer visi-
ble
sedimented blood in the occipital horns (c), the fourth
ventricle and the pericerebellar cisterns (a); moderate
dilatation of the lateral ventricles
Prenatal and Perinatal Cerebral Lesions of Circulatory Origin 209

6
Fig. 5.27 a-<:. A 3-day-old premature infant (born at
27 weeks, birthweight 960 g). Hyaline membrane disease.
CT: large, bilateral hemorrhage in the germinal matrix
along the lateral ventricles and in the choroid plexus
(b, c) with a relatively small amount of intraventricular
blood sedimented in the occipital horns; moderate ven-
tricular dilatation. Outcome was rapidly unfavorable

Fig. 5.28 a-f. A 7-day-old premature infant (born at I>

32 weeks, birthweight 1510 g). History of intraventricu-
lar hemorrhage in the first days of life. CT (a, b): small
subependymal hematomas in the frontal germinal re-
gions (a); the lateral ventricles are filled with blood. At
the age of 3 weeks, increase in head circumference is
slightly above normal. CT (c, d): clear ventricular dilata-
tion. At the age of 3 months, development and clinical
examination are normal. CT (e, f): regression of ventric-
ular dilatation
210
Fig. 5.30 a-f. A 2-day-old infant (born at 41 weeks).
Breech delivery; irregular respiration with frequent epi-
sodes of apnea, axial hypotonia, hemorrhagic CSF. CT
(a-c): large subdural hemorrhagic collection covering
the left cerebellar hemisphere; absence of ventricular di-
Vascular Disorders
Fig. 5.29 a-f
latation. Treatment is symptomatic. At the age of 1
month the infant has normal clinical examination and
normal development. CT-Scan (d-f) may be considered
as normal
 Prenatal and Perinatal Cerebral Lesions of Circulatory Origin 211

<l Fig. 5.29 a-f. A 4-day-old premature infant (born at

33 weeks, birthweight 2100 g). Severe neonatal respirato-
ry troubles and prolonged anoxia; repeat seizures in the
first 2 days. CT (a-c): subependymal and intraventricu-
lar hemorrhage around the ventricular trigones and
along the right lateral ventricle; sedimented blood in
the occipital horns; abnormally marked edematous ap-
pearance of the white matter, especially in the right fron-
tal region. At the age of 9 months, the child presents
microcephaly, tetraparesis, and mental retardation. CT
(d-f): the lateral ventricles are enlarged, have irregular
contours suggesting diffuse leukomalacia; large porence-
phalic cyst in the right frontal white matter (d, e)

Fig. 5.31 a-d. A 3-day-old girl (born at 42 weeks). Dys- I>

tocic delivery with forceps molding the occipital vault;
almost permanent tremors of the limbs, axial hypotonia,
hemorrhagic CSF. CT (a, b): large hematoma of the
superior part of the cerebellar vermis extending into the
superior cerebellar cisterns; moderate ventricular dilata-
tion. Treatment is symptomatic. At the age of 1 year
the child presents a marked cerebellar syndrome and
moderate psychomotor retardation. CT (c, d): focal at-
rophy of the superior cerebellar vermis, moderate ven-
tricular enlargement

Fig. 5.32 a-f. A 2-day-old boy (born at 40 weeks). Breech
delivery; frequent episodes of apnea, axial hypotonia,
oculomotor paresis, hemorrhagic CSF. CT (a-c): sub-
dural hematoma covering the left cerebellar hemisphere
and the vermis; hemorrhage into the basal cisterns (a);
ventricular dilatation. Rapid worsening of the neu-
rologic disturbances leads to surgery, consisting of evac-
uation of the hematoma and revealing that the bleeding
originates from ruptured tentorial veins. At the age of
6 days the infant no longer has neurologic problems.
CT (d-f): disappearance of hematoma and of ventricular
dilatation
212
5.2 Postnatal Vascular Obstruction
Acute infantile hemiplegia, the most frequent
manifestation of cerebral vascular obstruction,
was described about 100 years ago (18). Vascu-
lar obstruction may appear at any age, including
the neonatal period. Its causes are multiple (Ta-
ble 5.1) and it may be located in the arteries,
veins, or capillaries. In some diseases, such as
congenital heart disease or meningitis, distinc-
tion between arterial or venous lesion is not al-
ways possible.
5.2.1 Arterial Obstruction
Obstruction of a large cerebral artery for up
to 5 min may not lead to any clinical symptoms
in conscious patients, as we have observed in
embolization procedures involving temporary
blocking of large cerebral arteries with inflat-
able balloons to avoid migration of therapeutic
emboli. More prolonged occlusion leads to
swelling of the white and gray matter, and the
appearance of the cerebral lesions will depend
on the systemic blood pressure, the size of the
ischemic area, and the duration of the arterial
occlusion.
- Blood may reflow into the ischemic area after
opening of anastomic arteries at its periphery
and after repermeation of the thrombosed ar-
tery (23). Correct systemic blood pressure and
oxygenation, as well as absence of marked
swelling in the ischemic area, may avoid ag-
gravation and extension of the ischemic le-
sions.
- Prolonged arrest of circulation in a cerebral
territory leads to lesions of the capillary and
arterial walls that may induce massive plasma
leaking and hemorrhage into the surrounding
brain if there is revascularization by collateral
circulation or repermeation.
- swelling of the ischemic area hindering cor-
rect local blood circulation.
- Decrease of systemic blood pressure and hy-
poxia may aggravate the consequences of fo-
cal cerebral ischemia.
Neuropathologic examination of the
ischemic area shows disintegration of the nerve
cells, the myelin sheaths, and the oligodendrog-
lia, with appearance of numerous polymor-
Vascular Disorders
phonuclears in the perivascular spaces, soon re-
placed by mononuclear infiltrates and astrocytic
infiltration. After several weeks the ischemic le-
sion forms a cystic space bordered by astrocytes
(6).
The topography and extent of the ischemic
area depends on many factors, including the
quality of the systemic circulation, the embolic
or thrombotic nature of the obstruction, and
its location.
- Obstruction of the internal carotid artery is
rare in childhood and results variously in ex-
tensive ischemia of the major part of the terri-
tory of the middle cerebral artery, or of only
a peripheral or central part of this territory,
particularly around the internal capsule. Isch-
emia of the territories of the anterior and pos-
terior cerebral arteries is exceptional in inter-
nal carotid artery occlusion.
- Obstruction of the subclavian artery at its ori-
gin may induce a vascular steal syndrome
with retrograde flow from the arterial circle
of Willis and the basilar artery - this is excep-
tional in childhood.
- Obstruction of the anterior cerebral artery
may lead to ischemic lesions of the medial
aspect of the cerebral hemispheres, the para-
median part of their convexity as far as the
parieto-occipital fissure, the anterior part of
the genu of the corpus callosum, and the ante-
rior and medial part of the basal ganglia and
the internal capsule.
- In obstruction of the middle cerebral artery,
the ischemic lesions may be located in the
orbital aspect of the frontal lobe, the tempo-
ral lobe, the insula, the superior part of the
internal capsule and basal ganglia, and the
convexity of the cerebral hemisphere (except
its paramedial aspect and the occipital lobe).
- Obstruction of the posterior cerebral artery
may involve the inferior surface of the tempo-
rallobe behind the temporal pole, the internal
aspect of the occipital lobe, the occipital pole,
the posterior part of the basal ganglia, the
cerebral peduncles, the subthalamic nuclei,
and the superior cerebellar peduncles.
- Obstruction of the anterior choroidal artery
leads to lesions in the posteromedial border
of the anterior commissure, part of the head
Arterial Obstruction
and most of the tail of the caudate nucleus,
part of the amygdaloid nucleus, the lateral
geniculate body, the subthalamic region, part
of the cerebral peduncles, the optic radia-
tions, the fascia dentata, and the hippocam-
pus.
- Obstruction in the territory of the basilar ar-
tery leads to lesions depending largely on the
branches directly involved.
The superior cerebellar artery vascularizes the
upper brain stem, the superior cerebellar pe-
duncles, the dentate nucleus, and the superior
part of the cerebellar hemispheres.
The territory of the anterior inferior cerebel-
lar artery includes the central part of the brain
stem, the inferior part of the middle cerebellar
peduncle, the flocculus, and the adjacent cere-
bellar hemisphere.
The posterior inferior cerebellar artery pro-
vides vascularization of the roof nuclei of the
fourth ventricle, the posterior part of the den-
tate nucleus, the inferior surface of the cere-
bellar hemipheres, and part of the medulla
oblongata.
Numerous small perforating arteries, direct
branches of the basilar artery, participate in
the vascularization of the brain stem.
The clinical manifestations of acute cerebral
ischemia vary largely with age, etiology, size,
and location of the lesion. Single or multiple,
central or cortical ischemic lesions may induce
an unlimited number of clinical syndromes. The
most frequent syndromes may be classified ac-
cording to their location and the artery in-
volved.
Cortical and central infarcts in the territory of
the anterior and middle cerebral arteries:
Ischemic lesions of this location are the most
frequent in infancy and childhood. Hemiplegia
is nearly always present. It usually appears over
a period of a few hours, sometimes with two
distinct phases of aggravation. It predominates
in the upper limb and affects the face. Conjugate
deviation of the eyes and hemianopsia are fre-
quent in larger infarcts. Aphasia of either the
expressive or the mixed type is observed in corti-
cal lesions (40) and in basal ganglia infarcts (2,
14) of the predominant cerebral hemisphere.
213
Disturbances of consciousness are generally
mild, except in large infarcts and in infarcts re-
vealed by seizures. Seizures are relatively rare,
except in the neonatal period and in large in-
farcts involving extensive cortical areas. Head-
ache is rare and suggests an hemorrhagic infarct
or an ischemia associated with an arteriovenous
malformation. EEG reveals slow wave activity
projecting over the ischemic area. CSF may
show moderate increase of proteins.
Paralysis of the face and the lower limbs usu-
ally resolves within a few days or weeks. Great
improvement of the paralysis of the upper limb
is observed in the larger number of affected chil-
dren, particularly when there is no apparent
cause: 26 of 40 idiopathic cases (9) had total
recovery. In the less favorable cases, the paretic
limbs that were initially hypertonic progressive-
ly became hypotonic, sometimes dystonic.
Recurrence of thrombosis is rare except in
congenital heart disease and in arterial dyspla-
sia, e.g., fibromuscular dysplasia, neurofibro-
matosis, moyamoya syndrome, and homocys-
tinuria. Repeat infarcts may lead to marked mo-
tor infirmity, mental retardation, and epilepsy.
Infarcts involving the internal capsule and the
basal ganglia: Infarcts of this location seem to
be frequent in childhood (41).
- Hemiplegia is the most frequent clinical mani-
festation; it may appear abruptly or over a
period of several hours. It predominates in
the upper limbs, but usually concerns also the
lower limbs and the face. Pyramidal signs re-
main discrete. EEG and CSF are usually nor-
mal.
- Hemianopsia is relatively rare.
- Language disorders are frequently observed
in basal ganglia infarcts (2, 14), especially
those located in the head of the caudate nucle-
us and the anterior limb of the internal cap-
sule of the predominant hemisphere. They
consist of aphasia, dysphasia, oral apraxia,
disturbance of comprehension, and mutism.
Lesions of the posterior limb of the internal
capsule and of the body of the caudate nucle-
us are more likely to induce dysarthria. These
language disorders most often disappear
within several days or weeks.
214
- Ataxic hemiparesis is a particular syndrome
observed in infarcts of the internal capsule
(15, 16,22,35). Adult observations have been
published, and we have observed two pediat-
ric cases. It associates mild weakness of one
side of the body and marked dysmetria of
the same side. Dysmetria in our cases was
so marked that it suggested hemiballismus.
Walking with a marked ataxic gait was possi-
ble for our patients. Clinical evolution is gen-
erally favorable within one or several weeks.
Similar neurologic symptoms have been ob-
served in infarcts in the contralateral pons
(16).
Parieto-occipital infarcts: Infarcts of this loca-
tion are relatively rare in childhood. They are
most frequently related to a specific condition,
such as congenital cardiopathy, arterial dyspla-
sia, acute arterial hypertension (Fig. 5.42), col-
lapse of the systemic circulation, or compression
of the posterior cerebral artery against the free
edge of the tentorium (Fig. 5.42). Cortical blind-
ness or homonymous lateral hemianopsia are
the main clinical signs. Recovery is generally
marked, progressive over a period of several
weeks, but persisting amputation of a part of
the visual field is frequent.
Basilar artery occlusion: Over 40 cases of basilar
artery occlusion have been reported in the litera-
ture; our personal series includes four other
cases. Age ranges from 6 weeks (personal case)
to 16 years, and there is a clear male predomi-
nance. The etiology is most variable, including
congenital heart disease (19), bacterial endocar-
ditis, intracranial suppuration, surgical correc-
tion of coarctation of the aorta (30), trauma,
and compression by atlanto-axoidal luxation,
but the majority of the cases remain cryptogen-
etic.
Transient attacks of basilar insufficiency
with vertigo, ataxia, headache, and vomiting
generally precede the onset, which is usually
marked by disturbance of consciousness. The
clinical signs then depend on the location and
size of the ischemic lesion; they include pyrami-
dal and cerebellar signs, hemi- or even tetrapar-
esis, cranial nerve palsies, Claude Bernard-
Horner syndrome, conjugate lateral deviation
Vascular Disorders
of the eyes, and locked-in syndrome. The prog-
nosis for survival is generally better than in
adults, but severe neurologic sequelae are fre-
quent (Figs. 5.39, 5.40).
The neuroradiologic appearance of cerebral
ischemia largely depends on the delay between
onset and examination. CT most often remains
normal in the hours following onset. The first
abnormalities may be observed after 10-24 h in
large infarcts and consist of a zone of slightly
decreased density with ill-defined limits
(Fig. 5.34a-d) and a moderate mass effect. De-
crease in density continues over a period of sev-
eral days, and the ischemic area progressively
becomes uniformly edematous in density
(Figs. 5.34, 5.35, 5.39). The mass effect is most
marked after 2-3 days of evolution (Figs. 5.35,
5.39). Hemorrhages within the ischemic area
may appear in the first week of evolution. Con-
trast enhancement within the ischemic area,
generally absent during the first week, may be
observed after 7 days and becomes most marked
2-3 weeks after onset (Figs. 5.33c, d, 5.37). Ap-
preciation of the extent of the cerebral lesions
is difficult in the first week after onset, and gen-
erally remains imprecise in the first 2 weeks. Just
as difficult as appreciation of the precise extent
of the ischemia are diagnosis of the precise loca-
tion of the arterial obstruction and assessment
of the functional prognosis. Ischemia in the re-
gion of the interior capsule may be related to
obstruction of the anterior or middle cerebral
artery, or even of the internal carotid artery,
and may be associated variously with hemiple-
gia, ataxic hemiparesis, and language disorders.
After one or several months of evolution,
large ischemic areas present CSF density and
correspond to residual porencephalic cysts
(Figs. 5.36, 5.38). Small ischemic areas may
have apparently disappeared, either by revascu-
larization or by compression from the surround-
ing cerebral tissue.
Circulation in the cerebral vessels may be
examined by the Doppler method, arteriogra-
phy, and computer angiography.
The Doppler technique best explores ob-
struction of the extracranial carotid and verte-
bral arteries, and may give indirect information
in obstruction of large intracranial arteries.
Arterial Obstruction
Table 5.1. Causes of cerebral vascular obstruction in infancy and childhood
A. Arterial obstruction
1. Cardiac disease:
- congenital cardiac disease (39)
- myocarditis, endocarditis
- cardiac myxoma (28)
2. Hematologic disease:
- leukemia (promyelocytic)
- sickle cell disease
3. Infectious disease:
- bacterial and tuberculous meningitis
- viral infection (herpes zoster) (31)
- candido sis (36)
- sinusitis, otitis, amygdalitis (5, 20)
4. Inflammatory disease:
- periarteritis nodosa (17)
- lupus erythematosus
- Sch6nlein-Henoch syndrome (1, 7)
- Paraneoplastic syndrome
5. Disturbances of systemic circulation:
- acute dehydration (37)
- large burns
- cardiac arrest
- "near-miss" syndrome
6. Intoxications, trauma, iatrogenic pathology:
- carbon monoxide intoxication
- vincristine, cis-platinum toxicity
- irradiation
- cervical, intraoral trauma (20, 29)
- fat embolism (12)
- catheterization of cerebral and temporal arteries
(33)
7. Intracranial tumor:
- direct compression (6)
- indirect compression by cerebral herniation
- tumoral invasion of the arterial walls
Angiography remains indicated in all cases
of cerebral ischemia without evident etiology
such as congenital heart disease or bacterial
meningitis. It best demonstrates small arterial
lesions, as may be observed in fibromuscular
dysplasia; complex lesions, as in moyamoya; or
obstruction of a relatively small artery, such as
the anterior choroidal artery. It is performed
by direct arterial puncture, which should be ret-
rograde when carotid artery obstruction is sus-
pected.
Computer angiography with intravenous in-
jection of the contrast material has largely sup-
planted direct angiography. This new radiologic
procedure gives good information on the large
extracranial and intracranial arteries and veins.
215
8. Vascular malformations:
- arteriovenous malformation
- aneurysm
- vascular spasm in subarachnoid hemorrhage
- moyamoya syndrome (cryptogenetic or acquired)
(38)
9. Arterial dysplasias:
- fibromuscular dysplasia (25)
- neurofibromatosis
- Sneddon's syndrome (34)
10. Metabolic diseases:
- homocystinuria (32)
- hyperlipemia (21)
- Menkes' disease
11. Miscellaneous:
- arterial hypertension
- dissecting aneurysm (8)
B. Venous obstruction
1. Intracranial veins:
- intracranial infection (meningitis, empyema)
- otitis (11)
- acute infantile dehydration (37)
- congenital cardiac disease
- leukemia
2. Vena cava superior and jugular vein obstruction:
- catheterization
- tumoral compression
C. Capillary obstruction
- sickle cell disease
- Sch6nlein-Henoch syndrome (7)
- hemolytic-uremic syndrome (10)
Less aggressive than arteriography by direct ar-
terial puncture, it may be repeated more easily.
Small lesions of the arterial walls may, however,
go undetected.
The results of angiography depend on the
delay between onset of ischemia and examina-
tion. Repermeation of the thrombosis may oc-
cur as early as the 2nd day, which may explain
the number of normal angiographies in acute
cerebral ischemia of childhood.
The main causes of obstruction of the cere-
bral vessels are summarized in Table 5.1. We
shall discuss only some of these diseases, be-
cause of their frequency or their particular clini-
calor neuroradiologic presentation.
216
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Pontage veineux pour thrombophlebite du sinus lat-
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Arterial Obstruction 217

dents in patients with congenital heart disease. Arch References

Neurol Psychiatr 77:483-489
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of childhood aphasia. Ann Neurol 3: 273-280 thologic complications of cardiac surgery. J Thorac
41. Young RS (1983) Capsular stroke as a cause of he- Cardiovasc Surg 61: 676-685
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42. Zimmerman RA, Bilaniuk LT, Packer RJ et al. reoathetosis following cardiac surgery. J Pediatr
(1983) Computed tomographic-arteriographic cor- 84:232-235
relates in acute basal ganglionic infarction of child- 3. Cotterill CM, Kaplan S (1973) Cerebral vascular
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J Dis Child 125: 484-487
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5.2.1.1 Congenital Heart Disease
5. Gluck R, Hall J, Stevenson H (1952) Brain abscess
Congenital heart disease may lead to vascular associated with congenital heart disease. Pediatrics
9:192-203
and infectious cerebral complications, the inci-
6. Martell RR, Linde LM (1961) Cerebrovascular acci-
dence of which mainly depends on the age of dents in tetralogy of Fallot. Am J Dis Child
the patient and the type of the cardiac disease. 101:206-209
Vascular complications occur essentially in 7. Matson DD (1965) Intracranial arterial aneuryms
right-to-Ieft shunts and are particularly frequent in childhood. J Neurosurg 23: 578-581
8. Sedzimir CB, Jones EW, Hamilton D et al. (1972)
in transposition of the great vessels (3, 6, 10).
Management of coarctation of aorta and bleeding
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when infectious complications are exceptional. ropaediatrie 4: 124-133
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cise cause - embolus, systemic cardiac failure,
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to determine. Polycythemia may increase the
5.2.1.2 Moyamoya Syndrome
tendency to local thrombus formation.
Acute hemiplegia, disturbances of con- Moyamoya syndrome is characterized by pro-
sciousness, and seizures are the most frequent gressive obstruction of the main cerebral arte-
clinical signs at onset. Neurologic sequelae such ries with development of a rich collateral circu-
as psychomotor retardation, motor deficit, and lation of small arteries appearing as "smoke"
epilepsy are frequent. (moyamoya) on arteriography. First described
In a series of 28 personal observations, as a disease of unknown origin in Japan (4, 5),
transposition of the great vessels (nine cases) it has been observed secondarily in various con-
and Fallot's tetralogy (eight cases) represented ditions, such as arterial hypertension (2), hyper-
the most frequent types of cardiac malformation lipemia, and neurofibromatosis, and after crani-
complicated by cerebral ischemia (Fig. 5.36). al irradiation (3).
Acute choreoathetosis following cardiac sur- The clinical symptoms usually consist of re-
gery with hypothermic extracorporeal circula- current episodes of acute hemiplegia, possibly
tion (2) was a particular neurologic complica- tetraplegia, with progressive worsening of the
tion observed in two personal cases. CT per- neurologic condition.
formed 1 week after onset remained normal in At the onset, CT may be normal or show
these cases. focal or diffuse cerebral atrophy; later it reveals
Coarctation of the aorta may be associated ischemic areas, located essentially in the territo-
with intracranial aneurysms, which are fre- ry of the middle cerebral artery, and marked
quently multiple (7, 8). cerebral atrophy (Fig. 5.43). Arteriography (1)
218
is typical, showing stenosis and occlusion of the
main cerebral arteries with intense collateral cir-
culation formed by small arteries (Fig. 5.43).
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3. Rovira M, Torrent Q, Ruscalleda J (1975) Etiology
of moya-moya disease, acquired or congenital. Acta
Radiol [Suppl] (Stockh) 347: 229-240
4. Suzuki J, Kakaku A (1969) Cerebrovascular "moya-
moya" disease. A disease showing abnormal netlike
vessels in the base of the brain. Arch Neurol
20:288-299
5. Suzuki J, Kodama N (1983) Moyamoya disease -
a review. Stroke 14: 104-109
5.2.1.3 Fibromuscular Dysplasia
The rare pediatric cases of intracranial fibro-
muscular dysplasia are detected mainly in older
children and young adults. In most of these
cases the fibroplasia involves the internal elastic
lamina (3), an exceptional lesion in adult cases.
Acute hemiplegia is the main clinical mani-
festation (1, 2).
CT demonstrates the usual findings of cere-
bral ischemia, and only arteriography shows the
characteristic lesions: abnormal segments in one
or several cerebral arteries showing multiple mi-
crodilatations separated by fine strictures.
Diagnosis is confirmed by biopsy of the su-
perficial temporal artery (1).
References
1. Lemahieu SF, Marchau MMB (1979) Intracranial fi-
bromuscular dysplasia and stroke in children. Neu-
roradiology 18: 99-102
2. Shields WD, Ziter FA, Osborn AG et al. (1977) Fi-
bromuscular dysplasia as a cause of stroke in infancy
and childhood. Pediatrics 59: 899-901
3. Stanley JC, Gewertz BL, Bove EL et al. (1975) Arteri-
al fibrodysplasia: histopathologic character and cur-
rent etiologic concept. Arch Surg 110: 561-566
Vascular Disorders
5.2.1.4 Complications of Arterial
Catheterization
Arterial catheterization is performed for angio-
graphic procedures and for sampling of arterial
blood in infants with acute respiratory distress.
Ischemic complications in angiography should
no longer be seen if correct technique and mod-
ern material are employed, avoiding clotting
along the catheters, erroneous injection of em-
bolic material,. and prolonged catheterization
time. More insidious are accidents resulting
from retrograde catheterization of the superfi-
cial temporal artery in which emboli are flushed
back to the carotid bifurcation and into the in-
ternal carotid artery.
Two observations reported in the literature
(1) and one personal observation concern in-
fants aged 1-2 months presenting alteration of
consciousness and focal motor seizures after in-
jection into a temporal artery. In our case, CT
in the days following the accident showed an
edematous area in the territory of the homola-
teral middle cerebral artery, and repeat CT sev-
eral months later showed a porencephalic cyst
in the same location.
Reference
1. Prian GW, Wright GB, Rumack CM et al. (1978)
Apparent cerebral embolization after temporal artery
catheterization. J Pediatr 93: 115--118
5.2.1.5 Arterial Occlusion Secondary
to Intracranial Tumors
Arterial obstruction in intracranial tumors may
be due to various mechanisms:
- Direct arterial compression is observed essen-
tially in large tumors of the sphenoidal, su-
prasellar, and pineal regions, with occlusion
of the terminal internal carotid, middle cere-
bral, and posterior cerebral arteries respec-
tively (1).
Indirect arterial compression may be seen in
cerebral herniation:
obstruction of the posterior cerebral artery
in herniation of the temporal lobe through
Arterial Obstruction
the foramen ovale and in acute hydrocephalus
(Fig. 5.42)
obstruction of the posterior and inferior cere-
bellar artery in cerebellar herniation through
the foramen magnum
Tumoral extension into the arterial walls may
lead to acute or slowly progressive arterial
obstruction (2).
Cranial irradiation may lead to alterations of
the arterial walls with progressive obstruction
(3).
Distinction between tumoral compression
and radionecrosis may sometimes be difficult.
References
1. Blackwood W, Corsellis J (1976) Greenfield's neu-
ropathology, 3rd edn. Arnold, London pp 58-67
2. Leeds NE, Rosenblatt R (1972) Arterial wall irregu-
larities in intracranial neoplasms. The shaggy vessel
brought into focus. Radiology 103: 121-124
3. Painter MJ, Chutorian AM, Hilal SK (1975) Cere-
brovasculopathy following irradiation in childhood.
Neurology 25: 189-194
5.2.1.6 Delayed Hypoxic Encephalopathy
Delayed hypoxic encephalopathy has been re-
ported after carbon monoxide intoxication, an-
oxia (3), surgical and anesthetic complications
(2), cardiac arrest, and heroin overdose (4).
Demyelination with relative sparing of the
neurons is a common neuropathologic finding,
contrasting with the predominant gray matter
lesions observed in acute hypoxic encephalopa-
thy. The precise physiopathologic mechanism
remains unclear (3). The appearance of the le-
sions suggests disturbances of the oligodendrog-
lial myelin system.
The clinical manifestations always appear
after a symptom-free period lasting from a few
hours to a week (5); in particular, the recovery
from anesthesia is normal. The first symptoms
are either visual or motor, with rapidly evolutive
amaurosis, tetraparesis, and pyramidal signs (1).
Cognitive dysfunction is generally absent, in
contrast to acute anoxic encephalopathy. Evo-
lution is usually benign in the cases with isolated
219
cortical blindness. Neurologic sequelae are fre-
quent in cases involving tetraparesis.
CT performed in the weeks after onset shows
an edematous appearance of the white matter
without contrast enhancement and signs of cere-
bral atrophy.
References
1. Devereux MW, Partnow MJ (1975) Delayed hypoxic
encephalopathy with cognitive dysfunction. Arch
NeuroI32:704-705
2. Gebauer PW, Coleman FP (1938) Postanaesthesic en-
cephalopathy following cyclopropane. Ann Surg
107 :481-485
3. Plum F, Posner JB, Hain RF (1962) Delayed neu-
rological deterioration after anoxia. Arch Intern Med
110:56-63
4. Protass LM (1971) Delayed postanoxic encephalopa-
thy after heroin use. Ann Intern Med 74: 738-739
5. Walsh FB, Hoyt WF (1969) Clinical neurophthalmo-
logy. Williams and Wilkins, Baltimore, p 2478
5.2.1.7 Sudden Infant Death Syndrome,
"Near-Miss" Syndrome
Sudden infant death syndrome represents the
main single cause of death in small infants.
Death results from acute cardiorespiratory dis-
tress of unknown etiology. In some cases the
cardiorespiratory distress is either transitory or
responds favorably to resuscitation, and the
condition is then referred to as near-miss syn-
drome. The two syndromes are thought to re-
present one clinical entity. About 15% of the
cases of status epilepticus in infancy are related
to near-miss syndrome (1).
A personal series of near-miss syndrome in-
cludes eight girls and 12 boys; the age at the
acute manifestation varied from 6 weeks to
5 months. A clear history of near miss with ap-
nea, cyanosis, hypotonia, and unresponsiveness
existed in 15 cases. In five cases the history of
near miss is probable: the infant was found un-
responsive in status epilepticus by its parents.
Cardiorespiratory distress responded favorably
to elementary parental resuscitation in 17 cases,
and only to medical resuscitation with respirato-
ry assistance in three cases.
220
Neurologic disturbances occurred in all
cases. They consisted of seizures in 18 cases, dis-
orders of consciousness in all cases, cortical
blindness in three cases - without seizures in
two cases - and pyramidal signs in 14 cases. The
seizures corresponded to status epilepticus in
17 cases, to repeat partial motor seizures in one
case. Tonic contraction of the four limbs was
observed in four infants presenting the most se-
vere deterioration of consciousness.
EEG in infants with seizures disclosed ictal
discharges alternating in both cerebral hemi-
spheres with frequent secondary generalization
(1). CSF studies frequently showed an isolated
increase in proteins, ranging from 0.4 to 10 gil.
Further clinical problems included diarrhea
(four cases) and transient renal insufficiency sec-
ondary to tubulopathy as shown by renal
biopsy.
Clinical evolution was favorable in seven
cases: the children display normal development
2 years after the acute events. Five patients have
slight mental retardation, and five others have
severe mental retardation with hyperkinetic be-
havior and tetraparesis. One infant died on the
3rd day. In two cases the follow-up time is too
short for correct long-term evaluation.
CT at the acute stage was normal in seven
cases and showed ischemic brain lesions in
13 cases. Extension of the ischemic lesions was
moderate -less than a fourth of a cerebral hemi-
sphere - in seven cases and marked in six cases
- more than half a cerebral hemisphere, general-
ly bilateral. The ischemic areas had ill-defined
limits, were of edematous density, and occasion-
ally had small hemorrhagic spots in the center
(Figs. 5.44, 5.45).
On follow-up examinations, the initially nor-
mal CT findings remained normal. In two cases,
small ischemic lesions observed initially could
no longer be detected on follow-up. In the cases
with extensive ischemic lesions on the first scan,
later examinations revealed focal or diffuse cere-
bral atrophy with large ischemic areas (Figs.
5.44, 5.45), approaching diffuse cortical necrosis
in two cases (Fig. 5.45). Cerebral ischemic le-
sions confined to the white matter have been
described in a previous publication (2).
Vascular Disorders
References
1. Aubourg P, Dulac 0, Plouin P et al. (1985) Infantile
status epilepticus as a complication of "near miss".
Dev Med Child NeuroI27:40-48
2. Takashima S, Armstrong D, Becker L et al. (1978)
Cerebral white matter lesions in sudden infant death
syndrome. Pediatrics 62: 155-159
5.2.2 Thrombosis of the Cerebral Veins
Thrombosis of the cerebral veins may be ob-
served as a complication in numerous diseases,
such as bacterial meningitis, congenital cardiac
disease, leukemia (2), intracranial tumors, sin-
usitis, otitis (3), polycythemia, intravascular co-
agulation, and acute infantile dehydration (1).
The most frequent symptoms of venous
thrombosis are headache, alteration of con-
sciousness, and seizures. The CSF is usually
hemorrhagic. Evolution depends on the location
and extension of associated cerebral lesions.
CT at the acute stage may show areas of
edematous density which often have small hem-
orrhages in the center, suggesting a hemorrhagic
infarct. Digital substraction angiography may
demonstrate the venous thrombosis directly
when it is located in a large vein or sinus.
Thrombosis of the jugular veins may occur
after prolonged catherization (4,5). At the acute
stage, it is frequently associated with drowsiness
and seizures; later, it may lead to increased in-
tracranial pressure and/or hydrocephalus (4, 6).
In three personal observations the ventricular
dilatation stabilized after 3 months and shunt
operation was not necessary. Ventricular dilata-
tion was always associated with enlargement of
the" pericerebral" spaces.
References
1. Aicardi J, Goutieres F (1973) Les thromboses vein-
euses intracraniennes. Arch Fr P6diatr 30: 809-830
2. David RB, Hadield MG, Vines FS et al. (1975) Dural
sinus occlusion in leukemia. Pediatrics 56: 793-796
3. Delumley L, Boulesteix L, Sindou M et al. (1980)
Pontage veineux pour thrombophl6bite du sinus lat-
eral. Arch Fr P6diatr 37:183-186
Diseases with Obstruction of the Cerebral Capillaries
4. Hooper R (1961) Hydrocephalus and obstruction of
the superior vena cava. Pediatrics 28: 792-799
5. Newman LJ, Heitlinger L, Hiesiger E et al. (1980)
Communicating hydrocephalus following total par-
enteral nutrition. J Pediatr Surg 15:215-217
5.2.3 Diseases with Obstruction
of the Cerebral Capillaries
5.2.3.1 Hemolytic-Uremic Syndrome
Neurologic disturbances are observed in about
half the cases of hemolytic-uremic syndrome.
Most often they are transient, resulting from
metabolic disturbances; persisting neurologic
sequelae are relatively rare. The cerebral lesions
in these rare cases correspond to foci of isch-
emia or hemorrhagic infarction due to micro-
thrombi (4), and are essentially observed in
cases with severe renal signs such as prolonged
anuria. The neurologic signs consist in seizures,
sometimes prolonged in status epilepticus,
coma, decerebrate spasms, and focal motor defi-
cit appearing at onset or a few days after the
onset of hemolytic-uremic syndrome (2). Seque-
lae may include mental retardation, epilepsy,
pyramidal signs, and focal motor or visual de-
fects. The outcome may be favorable, even in
patients with prolonged coma and radiologic
abnormalities (3).
CT reveals the ischemic lesions as areas of
edematous density in one or both cerebral hemi-
spheres (Figs. 5.46, 5.47); involvement of the
basal ganglia (Fig. 5.48) is infrequent (3). Hem-
orrhage into the infarcted area may be observed
1-2 weeks after onset (1, 3) (Fig. 5.46).
References
1. Crisp DE, Sieger RL, Bale JF (1981) Hemorrhagic
cerebral infarction in the hemolytic uremic syndrome.
J Pediatr 99: 273-275
2. Rooney JR Anderson RM, Hopkins FJ (1970) Clini-
cal and pathological aspects of central nervous in-
volvement in the hemolytic uremic syndrome. Aust
J Paediatr 7: 28
3. Steele BT, Murphy N, Chuang SH et al. (1983) Re-
covery from prolonged coma in hemolytic uremic
syndrome. J Pediatr 102:402-404
221
4. Upadhyaya K, Barwick K, Fishaut M et al. (1980)
The importance of non-renal involvement in hemo-
lytic uremic syndrome. Pediatrics 65: 115-120
5.2.3.2 Sickle Cell Anemia
Sickle cell anemia is frequently complicated by
neurologic manifestations in the first years of
life. The main neurologic signs (1) include he-
miplegia, hemianopsia, aphasia, headache, sei-
zures, coma, and meningeal signs. They may
be transient with normal EEG and CSF, but
are frequently more severe and followed by neu-
rologic sequelae. In the latter case, EEG reveals
foci of slow waves or complete disorganization,
and CSF is xanthochromic with elevated protein
levels. Hypertransfusion therapy may inprove
the clinical condition, but does not prevent re-
currence (2).
Neuropathologic examination (1) shows
congestion of the capillaries, arterioles, and ven-
tricules and scattered ischemic lesions predomi-
nating in the white matter, with foci of gliosis,
mineralization, and spongiform transformation
of the deep white matter.
In five personal observations concerning
black children aged 2-9 years presenting acute
hemiplegia, drowsiness, or seizures, CT always
showed edematous areas with ill-defined limits
suggesting ischemic lesions. The CT appearance
was characterized by the association of enlarge-
ment of the ventricles and the sulci (Figs. 5.49,
5.50).
References
1. Baird RL, Weiss DL, Ferguson AD et al. (1964) Stu-
dies in sickle cell anemia. Clinico-pathological aspects
of neurological manifestations. Pediatrics 34: 92-100
2. Buchanan OR, Bowman WP, Smith SJ (1983) Recur-
rent cerebral ischemia during hypertransfusion thera-
py in sickle cell anemia. J Pediatr 103: 921-923
5.2.3.3 Schonlein-Henoch Syndrome
Schonlein-Henoch syndrome may be associated
in about 7% of cases with neurologic signs (3),
such as seizures, motor deficit, perturbation of
222
consCIOusness, and choreoathetosis. The neu-
rologic signs are usually observed in the severe
forms of the disease. In most cases they may
be related to transient disorders such as arterial
hypertension, renal insufficiency, and hypona-
tremia, but in some cases they are due to inflam-
matory arterial lesions (1,4) and lead to perma-
nent neurologic sequelae.
In one observation (2), CT showed an area
of edematous density with a hemorrhage in the
center, suggesting a hemorrhagic infarct.
Fig. 5.33 a-d. A 3-year-old boy: high fever of several
days duration, acute onset of right-sided hemiparesis
predominating in the lower limb, drowsiness. CT on the
second day after (a, b) contrast enhancement shows a
large zone of edematous density in the territory of the
left middle cerebral artery. CT 15 days after onset with
injection of contrast material (c, d) shows marked, heter-
ogeneous contrast enhancement in the ischemic region.
At the age of 4 years, this boy has nearly normal neu-
rologic findings
Vascular Disorders
References
1. Allen DM, Diamond LK, Howell DA (1960) Ana-
phylactoid purpura in children: review with a follow-
up of the renal complications. Am J Dis Child
99:833-854
2. Brunod R, Arthuis M (1983) Manifestations neurolo-
giques au cours d'un purpura rhumatoide. Arch Fr
Pediatr 40: 33-34
3. Demontis G, Turpin J (1971) Purpura rhumatoide
et manifestations neurologiques. Ann Med Interne
(Paris) 122: 841-848
4. Gairdner D (1948) The Schonlein-Henoch syndrome.
QJ Med 17:95-122
Fig. 5.34 a-d. A 4-year-old boy: acute hemiplegia pre-
dominating in the upper limb associated with apraxic
aphasia. CT the day after onset with injection of contrast
material (a, b) shows an ill-defined zone of edematous
density in the left frontal region. Angiography demon-
strates complete thrombosis of the left internal carotid
artery. Clinical recovery is rapid; neurologic examina-
tion is normal 2 months after onset. CT 3 months after
onset (c, d) without contrast enhancement shows residu-
al ischemic lesions in the region of the anterior part
of the basal ganglia and the internal capsule and in the
antero-external frontal region
Postnatal Vascular Obstruction 223

Fig. 5.35 a, b. A 4-year-old girl presenting acute right-

sided proportional hemiplegia and dysphasia. CT 2 days
after onset without contrast enhancement: zone of ede-
matous density in the region of the anterior basal gan-
glia, the head of the caudate nucleus, and the interior
capsule; slight compression of the left frontal horn. Clin-
ical recovery was complete for dysphasia, partial for he-
miparesis

Fig. 5.36 a--c. A 12-year-old boy with tetralogy of Fallot: mental retardation, frequent seizures, and hemiplegia.
severe neurologic disturbances after cardiac surgery at CT: cerebral atrophy, ischemic lesions in the territories
the age of 3 years. Now he presents microcephaly, severe of the left middle and right posterior cerebral arteries

Fig. 5.37 a-d. A 6-year-old girl with left-sided cerebral

hemiplegia: acute right-sided hemiplegia predominating
in the lower limb, associated to transient mutism. CT
10 days after onset with contrast enhancement (a, b):
zone of increased density in the region of the left internal
capsule and anterior basal ganglia corresponding to a
recent infarct; relative enlargement of the right frontal
horn with a small porencephalic cyst in the adjacent
white matter corresponding to an old ischemic lesion
(b). Doppler and arteriography are normal. Recovery
is nearly complete in 2 months. CT 4 weeks after onset
with contrast enhancement (c, d) gives better delimita-
tion of the ischemic region
224 Vascular Disorders

Fig. 5.38 a, b. A 2-year-old boy: acute right hemiplegia

predominating in the upper limb. Recovery is nearly
complete after 2 months. A CT scan done 1 day after
onset remained normal. CT 2 months after onset without
contrast enhancement: a small ischemic lesion in the
region of the basal ganglia and the posterior part of
the internal capsule

Fig. 5.39 a-g. A 6-year-old boy with a long history of

hemolytic anemia, splenectomy, and frequent respirato-
ry infections. The current neurologic disturbance had
a particularly acute onset, with sudden profound coma,
tonic seizures, right facial palsy, and diffuse pyramidal
signs. CT on the first day without contrast enhancement
(a, b) may be considered as normal. A second CT scan
3 days after onset with contrast enhancement (c-f): large
zone of edematous density involving the entirc brain
stem, the entire right and part of the left cerebellar hemi-
sphere (c-e); compression of the fourth ventricle (d) with
acute hydrocephalus. Bihumeral retrograde arteriogra-
phy (g): thrombosis of the basilar artery; only the left
posterior inferior cerebellar artery is respected. The pa-
tient died 10 days after onset
Postnatal Vascular Obstruction
Fig. 5.40 a-d. A 6-year-old boy presenting tonic seizures
of sudden onset followed by a kinetic mutism, hyper-
tonia of the limbs, diffuse pyramidal signs, and paresis
of the inferior limbs. CT without contrast enhancement
(a-c) shows a small ischemic lesion in the center of the
pons (a, b). Bihumeral retrograde arteriography (d):
thrombosis of the upper portion of the basilar artery
225
Fig. 5.41 a, b. A 10-year-old girl presenting acute signs
of increased intracranial pressure and sudden cortical
blindness 7 days after operation for cerebellar spongio-
blastoma. Despite shunt operation in the hours follow-
ing onset, recovery of vision was only partial. CT with
contrast enhancement: bilateral ischemic lesions in the
parieto-occipital regions, suggesting acute compression
of the posterior cerebral arteries
Fig. 5.42 a, b. A 5-year-old boy with arterial hyperten-
sion of renal origin: a severe hypertensive episode at
the age of 3 years was associated with seizures and coma
and followed by cortical blindness and moderate lan-
guage disturbances. CT: enlargement of the ventricular
trigones, bilateral ischemic areas in the parieto-occipital
regions
226
Fig. 5.43 a-f. A 4-year-old Algerian girl presenting re-
peated and only partially regressive episodes of hemi-
plegia and aphasia associated with seizures and inflam-
matory signs since the age of 3 years. Level of immuno-
globulins is increased; arterial biopsy shows signs of
nonspecific vascularitis. CT with contrast enhancement
(a-d): severe cerebral atrophy, diffuse ischemic lesions.
Vascular Disorders
Angiography (e left, f right carotid artery): preocclusive
strictures of the middle and anterior cerebral arteries,
numerous small angioma-like collateral arteries in the
territories of the perforating branches of the anterior,
middle, and posterior cerebral arteries; anastomosis be-
tween the ethmoidal branches of the ophthalmic arteries
and branches of the anterior cerebral arteries
Fig. 5.45 a-f. A 21/ rmonth-old boy found unconscious, t>
with only shallow superficial respiration and presenting
status epilepticus in the following hours. CT 1 day after
onset with contrast enhancement (a-c): diffuse, edema-
tous appearance of the cerebral hemispheres; compres-
sion of the lateral ventricles. CT 10 days after onset
without contrast enhancement (d-f): the corticosubcorti-
cal regions of the cerebral hemispheres have an edema-
tous appearance, contrasting with the normal density
of the basal ganglia and the brain stem, suggesting dif-
fuse cortical necrosis
Postnatal Vascular Obstruction
Fig. 5.44 a-f. A 2-month-old boy, found by his parents
without respiration, in coma; recovery of the vital func-
tions after external massage. On arrival at hospital, he
presented status epilepticus and coma. CT on the 10th
day after onset without contrast enhancement (a-c): dif-
fuse, bilateral ischemic lesions of edematous density in
Fig. 5.45 a-f
227
the territories of the anterior and middle cerebral arter-
ies; slight ventricular enlargement. At the age of 3
months the boy presents convulsive encephalopathy, dif-
fuse pyramidal signs. CT 1 month after onset with con-
trast enhancement (d-f): progression of cerebral atro-
phy; better delimitation of the ischemic lesions
228 Vascular Disorders

Fig. 5.46 a-d. A 6-month-old boy presenting a severe

form of hemolytic-uremic syndrome: anuria, coma, Fig. 5.47 a-d. A 1S-month-old girl with severe hemolytic-
right-sided pyramidal signs, repeat clonic seizures during uremic syndrome: anuria, coma, repeated clonic seizures
10 days; clear aggravation of the neurologic presenta- for 2 weeks. CT with contrast enhancement: moderate
tion, episodes of tonic seizures. CT 12 days after onset cerebral atrophy, numerous ischemic areas of edematous
of neurologic signs without contrast enhancement: hem- density in both cerebral hemispheres
orrhagic infarct of almost the entire left cerebral hemi-
sphere with temporal herniation into the posterior fossa
(lateral displacement of the fourth ventricle) and hernia-
tion of the left hemisphere under the falx (the left lateral
ventricle is found on the right side of the midline), and
reactive subdural collection (a-c)

Fig. 5.48 a, b. An 18-month-old girl with severe hemo-

lytic-uremic syndrome: coma, pyramidal signs, hyper-
tonia of the limbs. CT 16 days after onset with contrast
enhancement: bilateral zones of edematous density in
the region of the basal ganglia and the adjacent white
matter, predominating on the right side. Clinical recov-
ery was nearly complete in 2 months
Cranial and Cerebral Vascular Malformations 229

!::,.
Fig. 5.49 a--c. A 2-year-old black girl with sickle cell
anemia: status epilepticus followed by right hemiparesis.
CT 3 days after onset without contrast enhancement:
region of edematous density with ill-defined limits in
the left frontal lobe; moderate ventricular enlargement

Fig. 5.50 a-d. A l-year-old girl; the first symptom of I>

sickle cell anemia was acute right-sided hemiplegia with
perturbation of consciousness. CT 3 days after onset
with contrast enhancement: large ischemic lesion in the
territory of the left middle cerebral artery with compres-
sion of the left lateral ventricle

5.3 Cranial and Cerebral Vascular
Malformations
Cranial and cerebral vascular abnormalities
form an extremely heterogenous group in their
clinical manifestations, neuroradiologic presen-
tation, and anatomopathologic appearance.
They include such various abnormalities as arte-
riovenous malformations, aneurysms, caver-
nous hemangiomas, and venous malformations.
Neurocutaneous syndromes may be associated
with arterial and venous malformations such as
arterial dysplasia and aneurysms in neurofibro-
matosis and pial angioma in Sturge-Weber syn-
drome (see Chap. 2).
This chapter will deal with the vein of Galen
aneurysms occurring essentially in the neonatal
period and in infancy, the other arteriovenous
malformations and aneurysms, which reveal
themselves most frequently in late childhood,
the rare venous malformations, and the imma-
ture, tuberous craniofacial angiomas.
230
5.3.1 Arteriovenous Malformations
The generic term "arteriovenous malforma-
tion" includes a number of vascular malforma-
tions formed by abnormal vascular parenchyma
that may be predominantly arterial, venous or
capillary. The precise origin of the vascular tis-
sue is frequently impossible to establish. The
abnormal vascular mass may constitute an arte-
riovenous shunt, have a slow circulation, or
even be practically excluded from the blood-
flow and thus remain invisible on angiograms.
The classification of arteriovenous malfor-
mations is histologic (3,4):
a) Arteriovenous malformations sensu strictu
are formed by a focal group of immature ar-
teries and veins intermingled with brain tis-
sue. The arteries may shunt directly via di-
lated and tortuous capillaries into the veins.
The vascular walls may show hyalinization,
fibrosis, and ectasia. Calcifications and
thrombosis may occur within the malforma-
tion. The diameter of the malformation may
vary from several millimeters to about 4 cm.
b) Cavernous hemangiomas are composed of
endothelium-lined vascular spaces separated
by fibrous, collagenous walls. They fre-
quently calcify. Blood circulation in caverno-
mas is very slow, and they appear as avascu-
lar masses on angiograms.
c) Telangiectasias are small solitary masses of
capillary channels without muscle fibers in
their walls. They exceptionally induce clinical
manifestations, but are usually revealed by
pathologic examination.
d) Venous malformations consist of one or sev-
eral dilated, tortuous veins without arterial
shunt. They are rare, and exceptionally in-
duce clinical signs such as headache and sei-
zures.
The overall incidence of arterio-venous mal-
formations in childhood is difficult to evaluate.
They were considered as exceptional up to 1965,
but a cooperative study in 1966 (2) showed that
20% of arteriovenous malformations are re-
vealed before the age of 20 years. An increased
number of published observations in recent
years seems to indicate that the incidence of ar-
teriovenous malformations is the same in chil-
Vascular Disorders
dren as in adults. This revision of classical con-
cepts is particularly striking for cavernous he-
mangiomas, which were previously considered
to occur essentially in the third and fourth de-
cades of life (3, 4). Since the introduction of
CT the overall number of cavernous hemangio-
mas diagnosed and reported seems to have in-
creased (5), and the first pediatric observations
have been reported: three in a series of 39 cases
of arteriovenous malformations (1). In a per-
sonal series of 59 cases of arteriovenous malfor-
mations in children we have observed 13 cases
of cavernous hemangioma. The same series in-
cludes 30 children with arteriovenous malfor-
mation and 16 children with aneurysm of the
vein of Galen.
References
1. Brunelle FO, Harwood-Nash DC, Fitz CR et al.
(1983) Intracranial vascular malformations in chil-
dren: computed tomographic and angiographic eval-
uation. Radiology 149:455--461
2. Locksley HB (1966) Natural history of subarachnoid
hemorrhage, intracranial aneurysms and arterio-ve-
nous malformations. J Neurosurg 25:219-239
3. McCormick WF, Hardman JM, Boulder TR (1968)
Vascular malformations (" angiomas") of the brain,
with special reference to those occurring in the poste-
rior fossa. J Neurosurg 28: 241-251
4. McCormick WF (1966) The pathology of vascular
(arterio-venous) malformations. J Neurosurg
24:807-816
5. Savoiardo M, Strada L, Passerini A (1983) Intracra-
nial cavernous hemangioma: neuroradiologic review
of 36 operated cases. Am J Neuroradiology
4:945-950
5.3.1.1 Aneurysms of the Vein of Galen
Aneurysms of the vein of Galen are a particular
form of arteriovenous malformations resulting
from direct communication between cerebral ar-
teries and the vein of Galen. Dilatation of the
vein of Galen, the most striking feature of the
malformation, may vary from one to several
centimeters, reaching as much as half the intra-
cranial volume. The aneurysmal walls may cal-
cify and fissure, leading to subarachnoid hemor-
rhage. Spontaneous thrombosis has been ob-
served in two surgical cases in the literature (8,
Arteriovenous Malformations
13) and in three personal cases with neuroradio-
logic diagnosis (5). The arteriovenous malfor-
mation may induce acute and chronical brain
damage, such as severe periventricular leukoma-
lacia, vascular thrombosis, and areas of hemor-
rhagic infiltration (7, 12) by means of steal phe-
nomena, venous hyperpression, and relapsing
hemorrhages. Rupture of dilated subependymal
veins may lead to cataclysmic intraventricular
hemorrhage. Associated hydrocephalus was
usually due to intracranial venous hypertension
(2) in our series, as shown by ventricular reflux
on isotopic cisternography and spontaneous re-
gression of the ventricular dilatation after
thrombosis of the aneurysms (5). In some cases,
aqueductal compression by the aneurysmal
mass may represent the primary cause of the
hydrocephalus.
The clinical syndromes produced by aneu-
rysms of the vein of Galen fall into three groups
(6):
Group 1 includes children coming under
medical care within a few hours or days after
birth because of severe congestive heart failure
(11). Aneurysm of the vein of Galen is the main
intracranial vascular malformation responsible
for neonatal heart failure. The head circumfer-
ence is variably increased; the veins of the scalp
may be enlarged; a systolic bruit is heard over
the entire head. Chest films reveal cardiome-
galy. Cranial ultrasonography demonstrates a
characteristic round, unechoic structure in the
pineal region (4). Definite diagnosis is neurora-
diologic. The prognosis is poor, and most pa-
tients die within days or weeks from intractable
cardiac failure. Treatment by surgical ligation
or embolization remains unreliable in this age
group.
In group 2, the largest one, the clinical signs
appear at between 1 and 15 months of age. In
48 cases published before 1980 (5), macrocrania
was observed in 46, cranial bruit and dilatation
of the scalp veins each in a little over half the
cases. Cardiomegaly, generally without cardiac
failure, occurred only in a fourth of the cases.
In a personal series of 11 cases, onset was
at an age ranging from 2 to 15 months. The
first sign was macrocrania (nine cases), seizures
(two cases) or subarachnoid hemorrhage (one
231
case). Neurologic examination found an intra-
cranial bruit in four cases, epicranial venous di-
latation in four cases, pyramidal signs in seven
cases, axial hypotonia in six cases, and sunset
sign in nine cases. CSF was normal in four cases
and revealed subarachnoid hemorrhage in four
others. In the remaining three it was not studied.
Prognosis in this age group is generally re-
served. Spontaneous evolution implicates evolu-
tive hydrocephalus, which may be treated con-
servatively by shunt operation, progressive cere-
bral damage, which may simulate leukodystro-
phy, and acute hemorrhagic complications.
Spontaneous thrombosis reported in two pub-
lished observations (8, 13), has been observed
in three personal cases; neurologic examination
was normal in two of these children at later
follow-up.
Treatment by embolization in this age group
has become possible in recent years, and we
have knowledge of two cases with good results
(10). Neurosurgical ligation of the afferent ves-
sels was possible in numerous published obser-
vations (1, 2), but reports most often lack infor-
mation on sequelae, which may manifest them-
selves only months or years after operation.
In our series two children have died of acute
hemorrhage, and two children present progres-
sive neurologic deterioration, one in spite of
neurosurgical ligation of the afferent vessels.
One patient has died after operation, one after
embolization. In three patients the aneurysm
has thrombosed spontaneously, and the neu-
rologic status is grossly stable in two patients.
In group 3, the age of the patients at the
onset of the clinical manifestations varies from
2 years to 15 years and more. The five patients
of this group in our series presented with Parin-
aud's syndrome (5 cases), pyramidal signs (5
cases), cerebellar signs (4 cases), hydrocephalus
(4 cases), mental retardation (2 cases), and 6th
cranial nerve palsy (1 case). Three patients have
an unchanged clinical status 5 and 6 years after
diagnosis, two patients died, one of progressive
leukomalacia and one of acute intracranial hem-
orrhage.
Diagnosis of vein of Galen aneurysm may
be suggested by clinical signs, but must be con-
firmed by neuroradiologic investigations.
232
Plain skull films may show macrocrania and
signs of increased intracranial pressure, but will
rarely reveal the calcifications of the aneurysmal
walls that may be present.
CT (9) without contrast enhancement shows
the aneurysm as a round mass with a slightly
higher density than the cerebral tissue in the
pineal region (Figs. 5.51 a, b, 5.52a-c). Calcifi-
cations of the aneurysmal walls are relatively
rare (Figs. 5.51 e-h, 5.55). White matter calcifi-
cations revealing chronic ischemia were ob-
served in five of the 16 cases of our series. Areas
of edematous density in the cerebellum and the
basal ganglia region were observed in one case
and are thought to be another expression of
chronic ischemia. Progressive destruction of
brain tissue and encephalomalacia have been re-
ported in the literature (7) and were observed
in a personal case (Fig. 5.55). Subependymal he-
matomas secondary to rupture of dilated sub-
ependymal veins occurred in two personal cases
(Fig. 5.52). Enlargement of the lateral ventricles
existed in 14 of 16 cases; it was variable in de-
gree, most often marked, necessitating shunt op-
eration.
Injection of contrast material was always
followed by a clear increase in density of the
aneurysm, and rendered more precise apprecia-
tion of its volume; the diameter varied from
2 to 8 cm (Fig. 5.55). The contours of the aneu-
rysm are perfectly smooth. The draining vein
corresponding to the straight sinus may present
aneurysmal dilatation identical to that of the
vein of Galen (Figs. 5.51 c, d, 5.52e, f, 5.55a-c).
The origin of the major feeding vessels may fre-
quently be predicted on CT; the most frequent
origin is from the posterior cerebral arteries
(Figs. 5.51 e-:-g, 5.52d). Deep arteriovenous mal-
formations have led to aneurysmal dilatation
of the vein of Galen in three observations of
our series. Diffuse dilatation of intracranial
veins detectable on CT occurred in six cases and
was associated with particularly precocious and
severe neurologic disturbances (Fig. 5.52c-f).
In the three cases of spontaneous thrombo-
sis, the appearance of the aneurysm after con-
trast enhancement was heterogeneous with cen-
tral areas exempt of opacification, suggesting
blood clots within the aneurysmal lumen. The
Vascular Disorders
aneurysmal walls showed persistent opacifica-
tion by the vasa vasorum (Figs. 5.53 a, b, 5.54c,
d). The aneurysm then progressively diminished
in volume (Figs. 5.53c, d, 5.54e, f), accompanied
by spontaneous regression of ventricular dilata-
tion (Fig. 5.53c, d).
Angiography remains indicated only when
curative treatment is planned. It demonstrates
the dilated afferent vessels, which usually origi-
nate from the posterior cerebral arteries, less
frequently from the middle cerebral and anteri-
or cerebral arteries (Fig. 5.54a, b). After throm-
bosis or occlusion by embolization, or after sur-
gical ligation, dilatation of the afferent vessels
rapidly decreases (Fig. 5.54g).
References
1. Alvarez Garijo JA, Mengual MV, Gomila OT,et al.
(1980) Giant arteriovenous fistula of the vein of Ga-
len in early infancy treated successfully with surgery.
J Neurosurg 53: 703-706
2. Amacher AL, Shillito J Jr (1973) The syndromes
and surgical treatment of aneurysms of the great
vein of Galen. 39: 89-97
3. Cronquist S, Grunholm L, Lundstrom NR (1972)
Hydrocephalus and congestive heart failure caused
by intracranial arterio-venous malformations in in-
fants. J Neurosurg 36: 249-254
4. Cubberley DA, Jaffe RB, Nixon GW (1982) Sono-
graphic demonstration of Galenic arterio-venous
malformation in the neonate. Am J Neuroradiology
3:435-439
5. Diebler C, Dulac 0, Renier D et al. (1981) Aneu-
rysms of the vein of Galen in infants aged 2 to
15 months. Diagnosis and natural evolution. Neu-
roradiology 21: 185-197
6. Gold AP, Ransohoff J, Carter S (1964) Vein of Ga-
len malformation. Acta Neurol Scand [Suppl]
40:5-31
7. Grossman RJ, Bruce DA, Zimmerman RA et al.
(1984) Vascular steal associated with vein of Galen
aneurysm. Neuroradiology 26: 381-386
8. Heinz ER, Schwartz JF, Sears RA (1968) Thrombo-
sis in the vein of Galen malformation. Br J Radiol
41:424-428
9. Martelli A, Scotti G, Harwood-Nash DC et al.
(1980) Aneurysms of the vein of Galen in children:
CT and angiographic correlations. Neuroradiology
20: 123-133
10. Merland JJ (1984) Personal communication
11. Montoya G, Dohn DF, Mercer RD (1971) Arterio-
venous malformation of the vein of Galen as a cause
of heart failure and hydrocephalus in infants.
Neurology 21: 1054-1058
Arteriovenous Malformations
12. Norman MG, Becker LE (1974) Cerebral dammage
in neonates resulting from arteriovenous malforma-
tion of the vein of Galen. J Neurol Neurosurg Psy-
chiatry 37: 252-258
13. Weir BKA, Allen PBR, Miller JDR (1968) Excision
of thrombosed vein of Galen aneurysm in an infant.
J Neurosurg 29:619-622
5.3.1.2 Arteriovenous Malformations
(Sensu Strictu)
The arteriovenous malformations are the most
frequent vascular malformations in childhood.
They may be located in any region of the central
nervous system, but are more frequently supra
- than infra tentorial : 63 vs 23 cases in two pub-
lished series (3, 6), 24 vs 6 cases in a personal
series. Among the hemispheric arteriovenous
malformations the superficial, cortical variety
is more frequent than the deep.
The mean age at the first occurrence of clini-
cal signs is about 10 years. The revealing signs
are grossly similar in the different published se-
ries (3, 6, 7, 8, 9) and in a personal series of
30 cases. In the latter, they included intracranial
hemorrhage (20 cases), epilepsy (five cases), and
progressive motor and visual field defect (five
cases).
Intracranial hemorrhage occurred at an age
ranging from 7 to 17 years (mean 10 years). It
presented as an isolated subarachnoid hemor-
rhage in four cases, as an acute focal neurologic
deficit in four cases, and as an association of
both in 12 cases. In three cases, intermittent mi-
graine-like headache, torticollis, and transient
motor deficit occurred for several weeks preced-
ing the acute hemorrhage, as reported in pre-
vious observations (5). Epilepsy most often oc-
curred after the age of 10 years and usually cor-
responded to generalized seizures. Progressive
neurologic deficit was noted since the first year
of life in two cases, leading temporarily to a
false diagnosis of infantile hemiplegia. The mal-
formation induced hemiplegia (four cases), uni-
lateral dystonia (four cases), oculomotor palsy,
hemianopsia, and amblyopia. Extrapyramidal
tremor has been reported in two pediatric obser-
vations (11).
Plain skull films are generally normal, but
may show calcifications in the area of the vascu-
233
lar malformation (4) and unusually marked vas-
cular grooves on the vault, especially in malfor-
mations with dural participation (Fig. 12).
The arteriovenous malformation is fre-
quently detectable on CT without contrast en-
hancement as an area of heterogeneous, abnor-
mal density generally higher than that of the
surrounding brain tissue. Small calcifications
are clearly more frequently observed than on
plain skull films. Small ischemic lesions and por-
encephalic cysts may surround the arteriove-
nous malformation (Fig. 5.59).
After contrast enhancement, increase in den-
sity is marked in the malformation and its drain-
ing veins, thus exaggerating the volume of the
arteriovenous malformation per se. The malfor-
mation itself appears as a relatively homoge-
neous, dense zone giving rise to dilated tortuous
veins (Fig. 5.58). Deep malformations (Fig.
5.56, 5.57) have a grossly round and cortical
malformations (Fig. 5.58) a triangular configu-
ration. Vascular malformations have no mass
effect, but may simulate a mass when bUlging
into the lateral ventricles (Figs. 5.56, 5.57). It
has been reported that CT may detect small ar-
teriovenous malformations not seen on angiog-
raphy (1), but our experience proved the con-
trary; small malformations were always diag-
nosed more accurately by angiography
(Fig. 5.61).
Malformations complicated by hemorrhage
are easily detected on CT, and the hematoma,
when intracerebral, guides and often limits an-
giographic investigations (Figs. 5.60, 5.63, 5.64,
5.66). Intraventricular or subarachnoid bleeding
are of no or only poor value for the localization
of the malformation.
At the acute stage the hematoma is sponta-
neously dense, homogeneous (Figs. 5.60, 5.63,
5.66), and well delimited. In the following days
the density progressively diminishes at the pe-
riphery of the hematoma (Fig. 5.64). The period
before complete disappearance of the high den-
sity depends on the volume of the hematoma
and on the absence of recurrent hemorrhage.
In hematomas of 2 weeks and older, the sur-
rounding edematous brain tissue may show a
ring-like contrast enhancement, which some-
times, especially when partial, may simulate a
234
tumor. Intraventricular hemorrhage may lead
rapidly to evolutive hydrocephalus (Fig. 5.63)
with intraventricular septa and cystic dilatation
of portions of the lateral ventricles.
Detection of the arteriovenous malforma-
tion itself on CT after intracerebral or intraven-
tricular hemorrhage is usually impossible. In
our experience we found it preferable not to
administer contrast material, thus avoiding dose
limitation when angiography had to be per-
formed urgently.
CT may detect and locate' arteriovenous
malformations and their complications, but an-
giography still remains the primary examination
in all patients with suspected intracranial hem-
orrhage. Angiography may be done by direct
arterial puncture of the carotid arteries and of
the brachial arteries for vertebral angiograms,
or by femoral puncture with catheterization of
the carotid and vertebral arteries. Angiography
gives information about the feeding vessels,
which may be single or multiple (Figs. 5.56-
5.62), the exact size and location of the arterio-
venous malformation, and the venous drainage.
In periventricular malformations, ventricular
opacification and/or angiotomograms may be
necessary for precise localization.
An arteriovenous malformation appearing
inoperable on CT, because of deep location in
the region of the basal ganglia and the thalami,
may thus prove operable if angiography demon-
strates that it is subependymal (Fig. 5.56) or
vascularized by choroidal arteries (Figs. 5.60,
5.61).
The risk of primary or recurrent hemorrhage
constitutes the major indication for curative
treatment in arteriovenous malformations. This
risk is particularly high in adolescence and early
adulthood (4, 13). Currently two therapeutic
procedures are complementary. Embolization is
indicated when the malformation is supplied by
large arteries accessible to catherization, permit-
ting selective occlusion. Surgery remains indi-
cated in some cases, especially in superficial ar-
teriovenous malformations with numerous
small afferent arteries. Frequently, a combina-
tion of the two techniques is optimal.
Small, deep arteriovenous malformations
not exceeding 2 cm in diameter may be cured
Vascular Disorders
by highly localized, mono dose radiotherapy
(50 Gy) (10). Large, deep arteriovenous malfor-
mations are usually not amenable to curative
treatment.
Follow-up studies in 21 cases (17) showed
that the size of the arteriovenous malformation
increased in 12 cases, remained unchanged in
eight cases, and decreased in one case. In six
inoperable pediatric cases of our series, follow-
up CT showed progressive venous dilatation in
all cases, and an intracerebral hematoma in two
cases.
Spontaneous Hematomas. In 10 observations of
our series the children presented with acute
spontaneous intracranial hemorrhage. CT
showed signs of subarachnoid or intraventricu-
lar hemorrhage in four cases and an intracere-
bral hematoma in all 10 cases. The hematoma
was located in the cerebral hemispheres in seven
cases (Figs. 5.63, 5.64), in the cerebellum in one
case (Fig. 5.65), and in the brain stem in two
cases (Figs. 5.67, 5.68). Angiography detected
no arteriovenous malformation in any of these
cases. Surgical operation done in three cases of
compressive hemispheric or cerebellar hema-
toma did not reveal abnormal vascular tissue.
Follow-up angiographies after resorption of the
hematoma were always normal. It is probable
that in these observations a small vascular mal-
formation was dilated by the hemorrhage and
then compressed by the hematoma.
Recurrence was not observed in the sponta-
neous hemispheric and cerebellar hematomas,
but was seen in the two cases of hematoma of
the brain stem.
Hematomas of the brain stem are revealed
by signs of brain stem dysfunction. Sudden on-
set is characteristic, but not observed in all
cases. Hemorrhagic CSF is diagnostic, but is
not always present. CT without contrast en-
hancement shows the hematoma in the enlarged
brain stem (Figs. 5.67, 5.68) (15). Angiography
usually remains normal, as it did in two per-
sonal cases. Evolution is frequently rapidly fa-
tal, but spontaneous remissions have been ob-
served (2). Surgical evacuation of the hematoma
may help acutely (14, 16), but does not prevent
reccurrence.
Arteriovenous Malformations
References
1. Becker DH, Townsend JJ, Kramer RA et al. (1979)
Occult cerebro-vascular malformations. A series of
18 histologically verified cases with negative angio-
graphy. Brain 102:249-287
2. Britt RH, Stroud-Connor W, Enzmann DR (1981)
Occult arterio-venous malformation simulating mul-
tiple sclerosis. Neurology 31: 901-904
3. Brunelle FO, Harwood-Nash DC, Fitz CR et al.
(1983) Intracranial vascular malformations in chil-
dren: computed tomographic and angiographic
evaluation. Radiology 149: 455--461
4. Celli P, Ferrante L, Palma L et al. (1984) Cerebral
arterio-venous malformations in children. Surg
Neurol 22: 43--49
5. Gerosa MA, Capellotto P, Licata C et al. (1981)
Cerebral arteriovenous malformations in children
(56 cases). Child Brain 8: 356-371
6. Harwood-Nash DC, Fitz CR (1976) Neuroradio-
logy in infants and children. Abnormalities of the
cerebral arteries, vol 3. Mosby, St Louis, pp 902-
964
7. Humphreys RP, Hendrick EB, Hoffman HJ (1974)
Cerebrovascular disease in children. Can Med Assoc
J 107:774-781
8. Lagos JC, Riley HD (1971) Congenital intracranial
vascular malformations in children. Arch Dis Child
46:285-290
9. Lagos JC (1977) Congenital aneurysms and arterio-
venous malformations. In: Vinken PJ, Bruyn GW
(eds) Handbook of clinical neurology, vol 31. North
Holland, Amsterdam, pp 137-209
10. Lindquist M (1983) Personal communication
11. Lobo-Antunes J, Yahr MD, Hilal SK (1974) Extra-
pyramidal dysfunction with cerebral arteriovenous
malformation. J Neurol Neurosurg Psychiatry
37:259-268
12. Merland JJ (1984) Personal communication
13. Perret G, Nishioka H (1966) Arteriovenous malfor-
mations. An analysis of 545 cases of craniocerebral
arteriovenous malformations and fistulae reported
to the cooperative study. J Neurosurg 25 :467--490
14. Scott BB, Seeger JF, Schneider RC (1973) Successful
evacuation of a pontine hematoma secondary to
rupture of pathologically diagnosed" cryptic" vas-
cular malformation. J Neurosurg 39: 104-108
15. Texier P, Diebler C, Bruguier A et al. (1984) Hema-
toma of the brainstem in childhood. Neuroradiology
26:499-502
16. Vaquero J, Areito E, Leunda G (1980) Hematomas
of the pons. SurgNeuroI14:115-118
17. Waltino 0 (1973) The change in size of intracranial
arterio-venous malformations. J Neurol Sci
19:21-27
235
5.3.1.3 Cavernous Hemangiomas
Cavernous hemangiomas are large, tightly
packed vascular spaces contained within en-
dothelium and collagen, and thus do not have
brain parenchyma within the vascular spaces
(4). They form well-delineated masses; they may
calcify, and their diameter varies from a few
millimeters to 3 or 4 cm. Surrounding angio-
cytic tissue proliferation may pose the problem
of differential diagnosis from a tumor, which
sometimes may only be solved by long-term fol-
low-up (2, 7).
The clinical manifestations have been said
to appear most frequently in the third to fifth
decades of life and to be rare in childhood (7),
but this is in clear contradiction with the results
of our personal series of 19 cases, in 13 of which
the first clinical manifestations appeared in
childhood. In these 13 the age at appearance
of the first clinical sign ranged from 6 months
to 12 years, with a mean of 6.5 years. Cases with
onset before 2 years have rarely been reported
in the literature (5, 6).
Epilepsy is the most frequent clinical mani-
festation. It was observed in 25 of 36 cases in
a large series (7) published recently and in all
the 13 pediatric cases of our series. The seizures
are nearly always of the partial type, either par-
tial motor (seven cases) or partial complex (six
cases). The type of seizure generally remains un-
changed in the same patient. Only one child first
presented generalized seizures (at the age of
6 months) and later focal motor seizures. The
frequency of the seizures is variable; control by
adapted antiepileptic treatment is usually possi-
ble. A transient postictal defect was observed
in two children after their first seizure. EEG
most often reveals a slow wave, more rarely a
spike focus. Neurologic examination is normal;
only two patients had slight mental retardation.
Plain skull films are usually normal; a small,
round calcification was observed in only one
of our pediatric observations. This contrasts
with adult observations, where calcifications are
a frequent finding (1).
On CT without contrast enhancement, ca-
vernous hemangiomas present a variable den-
sity, ranging from edema-like (Fig. 5.72) to he-
236
matoma-like (Fig. 5.73). After injection of con-
trast material, increase in density is usually
marked (Fig. 5.73), but sometimes only slight.
Contrast enhancement may be heterogeneous
(Fig. 5.72) and even have a ring-like appear-
ance. The angioma is most often round and well
delimited; sometimes it is polylobulated, occa-
sionally it has irregular contours. The diameter
of the angioma varies from several millimeters
(Fig. 5.71) to 3-4 cm; most frequently it is be-
tween 1 and 2 cm. Small calcifications, not de-
tectable on plain skull films, were seen in six
of the 13 cases of our series (Figs. 5.71, 5.72);
they may appear and increase in size on follow-
up CT scans. Homolateral enlargement of the
lateral ventricle was observed in three personal
cases (Fig. 5.72) and has been reported in other
series (1,7).
Angiography most often remains normal
(7). It was normal in all our cases. A capillary
blush or an early draining vein are rarely ob-
served (3). Contrast material sedimentation
within large cavernous spaces, as in cavernous
hemangiomas of the orbit, is rarely observed
in intracranial cavernomas (5, 6, 8).
The diagnosis of cavernous hemangioma
was proven by operation in three children of
our series. The indication for operation was se-
verity of epilepsy and uncertain diagnosis.
Bleeding is an infrequent complication in adult
patients (7) and occurred in none of our pediat-
ric patients. Absence of neurologic signs, good
control of the seizures by treatment, and loca-
tion of the cavernoma in cerebral regions impli-
cating surgical risk are the reasons why the ma-
jority of our patients have not been operated on.
Diagnosis is thus usually clinical and neuro-
radiologic:
- Isolated, partial seizures with normal neu-
rologic examination
- Characteristic appearance on CT with normal
angiography
- Absence of growth on regular follow-up CT
scans over a period of at least 2 years
References
1. Bartlett LJE, Kishore PRS (1977) Intracranial ca-
vernous angioma. Am 1 Roentgenol128: 653-656
2. Fischer EG, Sotrel A, Welch K (1982) Cerebral he-
Vascular Disorders
mangioma with glial neoplasia (angiolipoma). Report
of 2 cases. 1 N eurosurg 56: 430-434
3. Liliequist B (1975) Angiography in intracerebral ca-
vernous hemangioma. N euroradiology 9: 69-72
4. McCormick WF, Hardman 1M, Boulter TR (1968)
Vascular malformations (angiomas) of the brain, with
special reference to these occurring in the posterior
fossa. 1 Neurosurg 28:241-251
5. Namagushi Y, Kishikawa T, Fukui M et al. (1979)
Prolonged injection angiography for diagnosing in-
tracranial cavernous hemangiomas. Radiology
131:137-138
6. Namagushi Y, Fukui M, Miyake G et al. (1977) An-
giographic manifestations of intracerebral cavernous
hemangioma. Neuroradiology 14: 113-116
7. Savoiardo M, Strada L, Passerini A (1983) Intracra-
nial cavernous hemangioma: neuroradiological re-
view of 36 operated cases. Am 1 Neuroradiology
4:945-950
8. Savoiardo M, Strada L, Passerini A (1983) Cavernous
hemangiomas of the orbit. Value of CT, angiography
and phlebography. Am 1 Neuroradiology 4:741-744
5.3.1.4 Intracranial Venous Malformations
Cerebral venous malformations or cerebral "ve-
nous angiomas" (1, 3, 4) are rare malformations
and correspond to one or several veins showing
abnormal dilatation not explained by an arterio-
venous shunt.
The only relatively constant clinical com-
plaint is severe recurrent, migraine-like head-
ache (3). Discovery of the venous malformation
is frequently fortuitous. CT is normal before
contrast enhancement, but after enhancement
reveals a small, round, dense area which on suc-
cessive views may be followed from the white
matter to the cortical regions.
Angiography, generally done on suspicion
of arteriovenous malformation, usually reveals
numerous, abnormally large medullary veins,
draining in an "umbrella-like" configuration
into a single dilated vein opacified at the early
venous phase of the angiography. Contrast ma-
terial may persist until up to 2 min after injec-
tion within this vein.
Abnormal venous drainage in the dural sin-
uses with local dilatation of cerebral and tentor-
ial veins was observed in two children from our
series presenting associated developmental de-
fects such as asymmetry of the cranial basis
(Figs. 5.74, 5.75), unilateral mandibular hypo-
plasia with congenital luxation of the temporo-
Intracranial Aneurysms
mandibular articulation (Fig. 5.75a, b), absence
of the septum pellucidum (Fig. 5.74), and sub-
cutaneous frontal angioma. Association of cra-
nial and venous abnormalities suggests embryo-
logic maldevelopment of the dura mater (2).
References
1. Fierstien SB, Pribram HW, Hieshima G (1979) An-
giography and computed tomography in the evalua-
tion of cerebral venous malformations. Neuroradio-
logy 17: 137-148
2. Hempel KI, Elmohamed A (1977) Anatomical varia-
tions of the dura mater and the dural sinuses. In:
Vinken PI, Bruyn GW (eds) Handbook of clinical
neurology, vol 30. North Holland, Amsterdam,
pp 415--429
3. Olson E, Gilmor RL, Richmond B (1984) Cerebral
venous angiomas. Radiology 151 :97-104
4. Saito Y, Kobayashi N (1981) Cerebral venous angio-
mas. Radiology 139: 87-94
5.3.2 Intracranial Aneurysms
Aneurysms correspond to a dilated segment of
an artery, the walls of which are thinned and
thus exposed to rupture. The aneurysm may be
saccular, resembling a pouch communicating
with the arterial lumen, or fusiform with seg-
mentary arterial dilatation, this type being ob-
served especially in basilar artery aneurysms. A
false aneurysm is formed by the rupture of an
arterial wall with secondary organization of the
hematoma, the lumen of which is connected
with the arterial blood circulation.
Aneurysms appear to be of essentially mal-
formative origin; they are probably the product
of the association of several predisposing fac-
tors. To our knowledge (4), no clinically latent
aneurysm has been discovered fortuitously on
angiography. Familial observations are rare;
39 cases were reported prior to 1974 (10). Sever-
al diseases are considered as predisposing for
intracerebral aneurysms, including Ehler-Dan-
los syndrome (8) and coarctation of the aorta
(11). In polycystic kidney disease, intracranial
aneurysms were observed in about 10% of the
cases in large series (2, 9).
Although observed at any age, including the
first year of life (4, 5) (one personal case), aneu-
rysms are much less frequent in children than
237
in adults, probably because their development
is postnatal, induced by predisposing factors,
and they only rarely present prerupture manifes-
tations (6). The age at rupture seems greater
than in arteriovenous malformations, and many
patients in pediatric series (4, 7) are in their late
teens, their clinical presentation thus approach-
ing that of adult patients.
There is no particular predilection for any
site, except for the supraclinoid carotid and the
proximal middle cerebral arteries. The size var-
ies from a few millimeters to several centimeters
(5) (Fig. 5.70). Large aneurysms seem to occur
with a greater frequency in children than in
adults (1). Multiple aneurysms occur in about
20% of adult cases, but are rare in childhood.
Prerupture clinical manifestations consist in
recurrent headache and symptoms resulting
from the mass effect of the aneurysm: ophthal-
moplegia (3), hemiparesis (5), and visual field
defects.
Rupture or fissure of the aneurysm results
in subarachnoid hemorrhage, focal neurologic
deficit, depending on the size and location of
the hematoma, and sometimes in coma of sud-
den onset or even sudden death. Neurologic
signs are particularly polymorphous in basilar
artery aneurysms, where they may include crani-
al nerve palsies, hemiparesis, pyramidal and cer-
ebellar signs, diminution of consciousness, and
may constitute the locked-in syndrome.
Plain skull films occasionally show abnor-
malities such as erosion of the clinoids or calcifi-
cations of the aneurysmal walls.
CT without contrast enhancement may
show the location and importance of the sub-
arachnoid bleeding (Fig. 5.69), thus indicating
the approximate location of the aneurysm and
possibly identifying the ruptured aneurysm
among the exceptionally observed multiple an-
eurysms. The aneurysm becomes visible on CT
when its diameter is larger than 4 mm, and gen-
erally shows clear contrast enhancement
(Fig. 5.70). Its size always appears greater on
CT than on angiography (Fig. 5.70), because of
the thickness of the aneurysmal walls and the
frequency of partial thrombosis. CT permits ap-
preciation of associated ischemic and destruc-
tive hemorrhagic lesions.
238
Angiography is indicated in all cases of in-
tracranial hemorrhage and must explore both
carotid and vertebral arteries because of the
possibility of multiple aneurysms. Correct visu-
alization of the arterial implantation of the an-
eurysm may require supplementary oblique
views (Fig. 5.70) and even angiotomograms. Ar-
terial spasm induced by subarachnoid hemor-
rhage may delay surgery and make repeat ar-
teriography necessary.
The frequency of hemorrhage by rupture
and of embolization by migration of intra-an-
eurysmal clots are the main indications for sur-
gical treatment, consisting of ligation or clip-
ping of the arterial implantation of the aneu-
rysm. Patients with large aneurysms, especially
basilar artery aneurysms, may be helped by em-
bolization of the afferent arteries (Fig. 5.70).
Spontaneous thrombosis usually does not di-
minish the risk of bleeding or embolization (12).
Acquired and false aneurysms of mycotic,
septic, or traumatic origin are exceptional in
childhood (4).
References
1. Amacher AL, Drake CG (1975) Cerebral artery an-
eurysms in infancy, childhood and adolescence.
Child Brain 1 : 72-80
2. Dalgaard OZ (1957) Bilateral polycystic disease of
the kidneys: a follow-up of 284 patients and their
families. Munksgaard, Copenhagen
3. Devadiga KV, Mathai KV, Chandy J (1969) Spon-
taneous cure of intracavernous aneurysm of the in-
ternal carotid artery in a 14 months old child. J Neu-
rosurg 30: 165-168
4. Harwood-Nash DC, Fitz CR (1976) Abnormalities
of the cerebral arteries. In: Neuroradiology in in-
fants and children, vol III. Mosby, St Louis,
pp 902-964
5. Kang JK, Huh CW, Ha YS et al. (1984) Giant glob-
al intracranial aneurysm in an infant. J Neurol Neu-
rosurg Psychiatry 47: 1047-1048
6. Lagos JC (1977) Congenital aneurysms and arterio-
venous malformations. In: Vinken PJ, Bruyn GW
(eds) Handbook of clinical neurology, vol 31. North
Holland, Amsterdam, pp 137-209
7. Matson DD (1965) Intracranial arterial aneurysms
in childhood. J Neurosurg 23: 578-581
8. Nagae K, Goka I, Udea K et al. (1972) Familial
occurrence of multiple intracranial aneurysms. J
Neurosurg 37: 364-367
Vascular Disorders
9. Patel AN, Richardson AE (1971) Ruptured intracra-
nial aneurysms in the first two decades of life; a
study of 58 patients. J Neurosurg 35: 571-576
10. Sakai NK, Sakate K, Yomada H et al. (1966) Fami-
lial occurrence of intracranial aneurysms. J Neu-
rosurg 25: 593-600
11. Sedzimir CB, Jones EW, Edwards R (1973) Manage-
ment of coarctation of aorta and bleeding intracra-
nial aneurysm in paediatric cases. Neuropiidiatrie
4: 124-133
12. Whittle IR, Dorsch NW, Besser M (1982) Spontane-
ous thrombosis in giant intracranial aneurysms. J
Neurol Neurosurg Psychiatry 45: 1040-1047
5.3.3 Craniofacial Capillary Hemangiomas
Capillary hemangiomas are benign tumors com-
posed of proliferating endothelial cells and an-
astomosing blood-filled channels (4). These an-
giomas generally appear shortly after birth as
a small mass with red discoloration of the over-
lying skin.
Most often the capillary hemangiomas have
no particular clinical significance. In some cases
the mass may grow rapidly in the neonatal peri-
od. Multiple, large hemangiomas may induce
thrombopenia (1). Craniofacial capillary he-
mangiomas may represent an esthetic and visual
problem when infiltrating the eyelids and the
orbits, because of possible proptosis and axial
deviation of the eye (3) (Fig. 5.76).
Thrombopenia and orbital location of the
hemangioma may render necessary treatment
with corticosteroids, either by systemic adminis-
tration or by local injection (3).
The spontaneous evolution of capillary he-
mangiomas is regressive, and resolution usually
begins in the 2nd year of life and is complete
at 4-7 years (2), sometimes later.
References
1. Katz HP, Askin J (1968) Multiple hemangiomata
with thrombopenia. Am J Dis Child 115:351-357
2. Margileth AM, Museles M (1965) Cutaneous heman-
giomas in children. JAMA 194: 523-526
3. Nelson LB, Melick JE, Harley RD (1984) Intrale-
sional corticosteroid injection for infantile hemangio-
mas of the eyelid. Pediatrics 74:241-245
4. Walsh T, Tompkins V (1956) Some observations on
the strawberry nevus of infancy. Cancer 9:896-904
Cranial and Cerebral Vascular Malformations
Fig. 5.51 a-I. A 5-month-old boy with moderate macro-
crania, sunset sign, dilatation of epicranial veins, and
pyramidal signs. CT without contrast enhancement: (a,
b): a perfectly round mass with a density slightly higher
than that of the surrounding brain is located in the pine-
al region. After injection of contrast material diagnosis
becomes evident; the mass opacifies intensely, is pro-
longed posteriorly by a dilated straight sinus (c, d). At
the age of 20 months the boy shows progressive hydroce-
239
phalus, moderate mental retardation, and progressive
deterioration of his neurologic status. Follow-up CT
shows progression of ventricular enlargement and, be-
fore contrast enhancement, extensive calcifications in the
white matter and the subcortical regions (e--h). After
contrast enhancement, CT reveals persistent vein of Ga-
len aneurysm and marked dilatation of the subependy-
mal veins (i-I)
240 Vascular Disorders

Fig. 5.52 a-f. A 3-month-old girl with marked macro- the afferent vessels are essentially cerebral posterior (d);
crania, sunset sign, and systolic intracranial bruit. CSF two large subependymal hematomas are bulging into
is hemorrhagic. CT before (a-c) and after (d-f) contrast the left lateral ventricle (a-c)
enhancement: large aneuryms of the vein of Galen (e);

Fig. 5.53 a-d. A 3-month-old boy presenting with sub-

arachnoid hemorrhage and sunset sign. CT with contrast
enhancement: perfectly round mass in pineal region with
dense outline and zones of edema density in its center.
The mass is continued backward by a large straight si-
nus. This appearance is typical of thrombosed aneurysm
of the vein of Galen (a, b). At the age of 9 months
the boy is doing well; his examination is normal. Control
CT shows that the aneurysm has vanished and the ven-
tricular dilatation regressed (c, d)
Cranial and Cerebral Vascular Malformations
Fig. 5.54 a-g. A 3-month-old boy with marked macro-
crania, sunset sign, and intracranial bruit. Angiography
(a, b) shows an aneurysm of the vein of Galen fed by
the anterior cerebral via pericallosal and posterior cere-
bral arteries. The boy was not presented for regular fol-
low-up examinations. When seen at the age of 15 months
he showed no social responsiveness and had hydroce-
phalus (head circumference +8 S.D.). CT with contrast
241
enhancement shows advanced hydrocephalus with a very
thin frontal cortex. The vein of Galen aneurysm has
the typical appearance of a thrombosed aneurysm (c,
d). Another CT scan with contrast enhancement at the
age of 18 months confirms thrombosis of the aneurysm,
which has vanished (e, f). A repeat angiogram (g) dem-
onstrates absence of injection of the aneurysm and re-
gression of the dilatation of the feeding vessels
242
Fig. 5.55 a-c. An 18-month-old girl, operated on in the
neonatal period for cardiac malformation (?). At 3
months she undergoes shunt operation for evolutive
hydrocephalus; at 18 months she is referred to our center
for suspected suprasellar teratoma because of linear su-
prasellar calcifications. Neurologic examination shows
Vascular Disorders
a child in vegetative status with sunset sign, axial hypo-
tonia, and pyramidal syndrome. CT with contrast en-
hancement: large aneurysm of the vein of Galen with
partially calcified walls, persistent dilatation of the left
lateral ventricle with nearly complete destruction of the
left cerebral hemisphere
Fig. 5.56 a-f
 Cranial and Cerebral Vascular Malformations 243

Fig. 5.57 a--e. A 16-year-old boy with acute subarach-

noid hemorrhage, normal neurologic examination 3 days
later. CT without (b, c) and after (d, e) contrast enhance-
ment shows a large, deep arteriovenous malformation
located between the right ventricular trigone and the
splenium. Angiography (a) demonstrates that it is fed
essentially by the posterior callosal artery

Fig. 5.58 a-d. A 12-year-old boy presenting partial sei- [>

zures since the age of 10 years. Neurologic examination
is normal. CT with contrast enhancement shows a large,
wedge-shaped cortical arteriovenous malformation (c, d)
with dilated draining veins (a-d) in the posterior half
of the left cerebral hemisphere

<I Fig. 5.56 a-f. Girl who presented a rapidly regressive

left sided hemiparesis at the age of 13 years. She now
has left-sided partial motor seizures. CT with contrast
enhancement shows a large, deep arteriovenous malfor-
mation bulging into the right lateral ventricle. (c-t). An-
giotomography associated with pneumencephalography
(a): the arteriovenous malformation itself is subependy-
mal, covering the floor of the right lateral ventricle. It
is fed by the middle cerebral artery via dilated lenticulos-
triate arteries (a) and by the posterior cerebral artery
via lateral choroidal arteries. (b). Successful removal of
the malformation was possible, but was followed by de-
finitive hemiplegia
244
Fig. 5.59 a-b. A 19-year-old patient presenting with
moderate mental retardation and seizures since the early
years of life. EEG reveals a right frontal slow waves
focus. CT with contrast enhancement (e-b): arteriove-
nous malformation in the central, anterior part of the
right frontal lobe; the dense, irregular areas of the mal-
formation itself are surrounded by and intermingled
Vascular Disorders
with areas of edema and CSF density suggesting focal
areas of cerebral destruction. Angiography with preco-
cious (a, b) and tardive (c) anteroposterior and lateral
views (d) demonstrates that the malformation itself can
be seen only on the CT views e and C, and that the
dense areas observed on the higher views g and b corre-
spond to dilated draining veins (c, d)
Cranial and Cerebral Vascular Malformations 245

Fig. 5.60 a-d. A 10-year-old boy with acute hemiplegia

and subarachnoid hemorrhage. CT before (c) and after
injection of contrast material shows a large hematoma
in the left thalamic region with intraventricular hemor-
rhage. There is no focal increase in density imputable
to an arteriovenous malformation after contrast en-
hancement (d). Vertebral angiography reveals an arterio-
venous malformation involving essentially the left poste-
rior cerebral artery via the lateral choroidal arteries (a la-
teral, b anteroposterior view)

Fig. 5.61. An Il-year-old boy with subarachnoid hemor-

rhage without neurologic deficit. A first CT scan re-
vealed blood clots in the left frontal horn, a second scan
was considered as normal. Carotid angiogram demon-
strates a small arteriovenous malformation in the right
temporal horn involving the anterior choroidal artery.
The body was operated on and has no neurologic seque-
lae
246 Vascular Disorders

Fig. 5.62 a-f

Fig. 5.63 a-f

 Cranial and Cerebral Vascular Malformations
<J Fig. 5.62 a-f. A 16-year-old girl with a 4-year history
of repeated intracranial and intracerebral hemorrhages,
progressive unilateral exophthalmia, chemosis, and
blindness. Surgical treatment was unsuccessful. CT with
contrast enhancement shows aneurysmal dilatation of
the right lateral sinus (d, e), dilatation of the tentorial
veins (b) the right cavernous sinus (b), and orbital veins,
suggesting an arteriovenous malformation with dural
fistula. Vertebral (a) and carotid external (b) angiograms
show a complex arteriovenous malformation of the ten-
torial region involving meningeal and cerebral arteries
<J Fig. 5.63 a-f. A 6-year-old girl with subarachnoid hem-
orrhage, disturbances of consciousness. CT without con-
trast enhancement, day of onset: hematoma in the inter-
nal left temporoparietal region (c) and extensive intra-
ventricular hemorrhage (d-f). The clinical presentation
of the patient rapidly deteriorated because of evolutive
hydrocephalus. Intraventricular partitions necessitated
repeat shunt operations. CT 3 weeks after onset shows
moderate dilatations of the right lateral ventricle (with
shunt), contrasting with evolutive dilatation of the left
lateral ventricle (d-f). Repeat angiographies failed to re-
veal an arteriovenous malformation
247
Fig. 5.64 a, b. An 8-year-old boy with a 2-week-history
of behavior and speech problems. CT with contrast en-
hancement shows a left temporal hematoma with a ring-
like opacification in the edematous area surrounding it.
Repeat arteriographies failed to reveal a vascular mal-
formation
Fig. 5.65 a, b. A 2-year-old boy with cerebellar syndrome
of sudden onset, followed progressively by signs of in-
creased intracranial pressure. CT done before (a) and
after (b) contrast enhancement, 2 weeks after onset,
shows a large heterogenous mass of elevated spontane-
ous density, without modification after injection of con-
trast material, located in the cerebellar vermis and the
adjacent part of the cerebellar hemispheres. The lateral
ventricles are dilated. Angiography fails to reveal an ar-
teriovenous malformation. Operation confirms diagno-
sis of cerebellar hematoma
248
Fig. 5.66 a-d. A 14-year-old girl with subarachnoid hem-
orrhage and cerebellar syndrome. CT without contrast
enhancement on day of onset shows a hematoma in the
right hemisphere and the vermis of the cerebellum (a,
b). Vertebral angiogram (c anterioposterior, d lateral
view) reveals an arteriovenous malformation involving
the right cerebellar arteries
Vascular Disorders
Fig. 5.67 a-f. A 12-year-old girl with rapidly progessive
onset of diplopia, hemiplegia and hemianesthesia, pare-
sis of the right fifth and seventh cranial nerves, and swal-
lowing problems. CSF is slightly hemorrhagic. CT with-
out contrast enhancement 3 days after onset shows a
small hematoma in the upper medulla oblongata and
the pons touching the floor of the fourth ventricle (a,
b). Aggravation of the neurologic symptoms 7 days after
onset coincides with clear increase of the hematoma on
CT (c, d). Partial remission of the neurologic problems
2 months after onset corresponds to a clear decrease
in the volume of the hematoma on CT (e, f). Vertebral
angiogram is normal. An acute relapse 2 months later
rapidly led to death
Cranial and Cerebral Vascular Malformations
Fig. 5.68 a-h. A 3-year-old girl with rapidly progressive
onset of walking problems, ataxia, coma, deviation of
the head and the eyes to the left, and absence of sponta-
neous movements. CSF is initially normal, 10 days later
reveals hemorrhage. CT before (a, b) and after (c, d)
injection of contrast material, 3 days after onset of the
acute clinical signs, reveals a large hematoma in the
249
center of the pons extending to the midbrain; its appear-
ance does not change after contrast enhancement. CT
11 days after onset (e-h) demonstrates a clear increase
in the volume of the hematoma and ventricular enlarge-
ment. The patient died 13 days after onset; anatomo-
pathologic examination failed to reveal an arteriovenous
malformation
250 Vascular Disorders

Fig. 5.69 a-c. An 11-year-old boy with subarachnoid

hemorrhage and diminution of consciousness. CT (b,
e) without contrast enhancement: moderate ventricular
dilatation, abnormal high density of the interfrontal, in-
terhemispheric fissure, suggesting a hemorrhage orig-
inating from the anterior cerebral arteries. Arteriogra-
phy reveals a saccular aneurysm of the right pericallosal
artery

a b

Fig. 5.70 a-f. An 8-year-old boy with a 2-month history

of fluctuating neurologic problems comprising sub-
arachnoid hemorrhage, hemiparesis, palsies of numerous
cranial nerves, and diminution of consciousness. CT
after contrast enhancement: large, round, dense mass
between the clivus and the brain stem (d-f), compressing
the brain stem, which seems to be in continuity with
the basilar artery (f). Angiography (a-c) confirms the
diagnosis of aneurysm of the basilar artery comprising
nearly its entire length between the origins of the poster-
ioinferior and superior cerebellar arteries. The aneurysm
is partially thrombosed: it is clearly larger on CT than
on angiography, (a frontal; b lateral; e oblique) which
only injects the posterior, permeable part of the aneu-
rysm
Cranial and Cerebral Vascular Malformations 251

Fig. 5.71 a--c. A 16-year-old girl presenting focal motor

(crural) seizures since the age of 11 years; the seizures
are currently well controlled by adapted treatment. Neu-
rologic examination is normal. CT after contrast en-
hancement: small, dense, partially calcified area in the
region of the paracentral lobule, suggesting diagnosis
of cavernous hemangioma. Angiography is normal

Fig. 5.72 a-f. A 14-year-old boy presenting, since the
age of 10 years, partial complex seizures which are now
well controlled by treatment. Neurologic examination
is normal. EEG demonstrates right temporal slow waves
focus. CT without contrast enhancement (a--c): area of
predominantly edematous density with a small calcifica-
tion in its center. Injection of contrast material is fol-
lowed by moderate, heterogeneous increase in density
(d-f). The right lateral ventricle is moderately and asym-
metrically enlarged. The CT appearance suggests the di-
agnosis of cavernous hemangioma; arteriography is nor-
mal. A 4-year CT follow-up has shown no modification
in size and appearance

Fig. 5.73 a-b. A 12-year-old girl with frequent complex

partial seizures for one year and a right frontal slow
waves focus on EEG. CT before contrast enhancement
(a): a spontaneously dense, round area with clear in-
crease in density after administration of contrast materi-
al (b) in the right frontal region suggests the diagnosis
of cavernous hemangioma. Angiography remains nor-
mal. Operation confirms CT diagnosis
252
Fig. 5.74 a-e. A 2-year-old child with seizures, slight
mental retardation, and cranial dysmorphia. CT after
contrast enhancement: asymmetry of the cranial base
(a), "rotation" of the cerebellum (a, b), abnormal dilata-
tion of the left tentorial veins and of the veins of the
Vascular Disorders
falx (e), and absence of the septum (d). Angiography
(a) (venous phase): abnormal venous distribution with
dilatation of the inferior longitudinal sinus and absent
longitudinal sinus
Cranial and Cerebral Vascular Malformations
Fig. 5.75 a-d. A 10-year-old boy presenting cranial
asymmetry with right mandibular hypoplasia, congenital
luxation of the temporomandibular articulation, and ve-
nous subcutaneous frontal angioma. CT with contrast
enhancement: asymmetry of the cranial base (b), right
temporomandibular luxation (a), abnormal dilatation of
the right cavernous sinus (b), the right tentorial veins
(c), and the right choroidal and ependymal veins (d).
Angiography confirmed abnormal venous distribution
and absence of the longitudinal sinus
253
Fig. 5.76 a-d. A 6-week-old girl with rapidly evoluti,ve
capillary hemangioma covering the entire upper half of
the face, leading to nearly complete bilateral palpebral
occlusion and asymmetrical proptosis. CT with contrast
enhancement (a, b): angiomatous infiltration of the sub-
cutaneous tissues of the external temporal fossae, the
eyelids, and the intraorbital tissue, leading to proptosis
predominating on the right side. At the age of 4 years,
resolution of the angioma is partial. The child presents
strabismus and severe refractive errors in both eyes. CT
with contrast enhancement: regression of the size of the
angioma, persisting infiltration of the eyelids (c, d)
6 Intracranial Tumors

Intracranial tumors are among the most com- Table 6.1. Breakdown of 614 intracranial tumors in chil-
mon neoplasms of infancy and childhood. Their dren (personal series 1984)
overall annual incidence varies from 1 to 5 for
Location/type n
a population of 100000 in different series (1,
4, 5). Their relative frequency is close to that Posterior fossa
of neuroblastoma and leukemia. (3). Medullo blastoma 59
The symptomatology of intracranial tumors Astrocytoma 46
is mostly atypical, often with a harmless clinical Ependymoma 26
Neuroblastoma 1
presentation. Thus the differential diagnosis
Brain stem tumor 96
must always include as an outside possibility Hemangioma 1
an intracranial space-occupying lesion. "Hemangioma calcifians" 2
The actual neuroradiologic approach to a Histiocytosis 1
suspected intracranial tumor - after plain skull Metastasis 2
Gliomatosis 2
films and possibly tomograms - is CT. Normal
Neurinoma 3
findings will exclude most intracranial tumors, Chordoma 2
except small mass lesions of the sella turcica, Dermoid cyst 3
of the region of the third ventricle, or of the
brain stem. Depending on the nature of any ab- 244
normal findings, CT may be followed by some
conventional neuroradiologic examinations (2). Region of third ventricle and sella turcica
NMR examination may be valuable for Germinoma 15
more precise delimitation of tumors of the brain Teratoma 4
stem and of the region of the third ventricle Pinealoma 7
in sagittal views, but its diagnostic efficiency in Astrocytoma 8
Unclassified tumor of pineal region 6
cerebral tumors is grossly the same as that of Optic glioma 46
CT in our experience. The findings of CT and "Hypothalamic" glioma 11
NMR imaging of cerebral tumors are frequently Glioma of third ventricle 17
very similar (see Sect 6.3.1, Fig. 6.86). Because Craniopharyngioma 60
of the high cost of NMR installations, CT will Chordoma 1
Chondroma 1
remain the primary tool for neuroradiologic di- Mucocele 1
agnosis of cerebral tumors for some years to Histiocytosis 1
come. Adenomas
The principal clinical signs and the neurora- Prolactin 10
diologic appearance of 614 cerebral tumors in ACTH 5
GH 2
infants and children are presented, classified Hyperplasia of hypophysis 3
by their location, which in nearly all cases IS
of greater importance than their nature 204
(Table 6.1).
256 Intracranial Tumors

Table 6.1 (continued) 6.1 Posterior Fossa Tumors

Location/type n
6.1.1 Medulloblastoma
Cerebral hemispheres
Basal ganglia tumors 31
Papilloma 10 Medulloblastomas represent about 20% of
Ependymoma 11 childhood intracranial tumors (1, 21, 31) and
Astrocytoma benign 13 are the second most common type of posterior
malignant 21
Oligodendroglioma 6
fossa tumors (31). The annual incidence is about
Meningioma 5 one in 200000 children (4, 13, 14). The male:
Sarcoma 8 female ratio ranges from 1.1:1 to 2.5:1 (14) and
Metastasis 9 the male predominance is thus more marked in
medulloblastoma than in the other tumors of
113
the central nervous system where it is present
Eyes and orbits (13). Incidence of cancer among first-degree rel-
Retinoblastoma 7 atives of patients with medulloblastoma is sig-
Optic glioma 11 nificantly higher than in a control population
Neuroblastoma 3 (14). The mean age at diagnosis is around
Rhabdomyosarcoma 3 6.5 year (14). The incidence of me dull obi as,tom a
Lymphoma 2
Histiocytosis 3
diminishes in the second decade of life, though
Immature hemangioma 6 adult cases may be encountered. Neonatal cases
Lymphangioma 3 have been reported (2, 26, 31, 32).
Infection 5 The tumor is located in the region of the
Neurofibroma 9 cerebellar vermis with extension to the cisterna
49 magna, occasionally laterally to the cerebellar
hemispheres or the cerebellopontine angle. On
macroscopic examination medulloblastomas are
solid, rather friable tumors which are moderate-
References
ly demarcated from the cerebellar tissue and
1. Clemmesen J (1965) Statistical studies in the aetiology may show extensions to the floor of the fourth
of malignant neoplasms. Acta Pathol Microbiol ventricle, the aqueduct, and the cisterna magna.
Scand [Suppl] 174 : 422 Cysts, foci of necrosis, and calcifications are
2. Diebler C, Merland 11, Grosvalet A et al. (1980) CT- rare.
Scan contribution to the diagnosis of intracranial tu-
On histologic examination the salient feature
mors and mass lesions in infancy and childhood. Prog
Pediatr Radiol 7: 1-99 of medulloblastoma is its monomorphous ap-
3. Farwell JR, Dohrmann GJ, Flannery JT (1978) Intra- pearance with extreme cellularity and frequent
cranial neoplasms III infants. Arch Neurol mitoses. The histologically distinct "classical"
35:533-537 and" desmoplastic" forms of medulloblastoma
4. Gold EB, Gordis L (1979) Patterns of incidence of
(6) display differences in age incidence and in
brain tumors in children. Ann N eurol 5: 565-568
5. Walker AE, Robins M, Weinfeld DF (1985) Epide- prognosis; desmoplastic medulloblastoma oc-
miology of brain tumors: the national survey of intra- curs in older patients (second and third decades
cranial neoplasms. Neurology 35:219-226 of life) and its prognosis is better. Astrocytic
(6, 31) and neuroblastic (27) differentiation of
medulloblastoma has been reported in the liter-
ature. The primitive nature of the tumor renders
precise histogenetic classification difficult, al-
though medulloblastoma is generally considered
to be a neuroepithelial tumor (30).
Medulloblastoma
Medulloblastoma represents one of the most
malignant tumors of the central nervous system
in childhood; there is rapid tumor growth and
a marked tendency toward metastasis. The me-
tastases generally occur along the CSF path-
ways (4, 9, 18, 23), especially in the region of
the third ventricle and in the spinal canal. Ex-
tracranial metastases have been reported by sev-
eral authors (5, 20, 25); they are located essen-
tially in the skeleton, more occasionally in the
VIscera.
Clinical manifestations in our series of 59
cases were very much similar to those in other
series; they always included signs of increased
intracranial pressure, which was associated with
a cerebellar syndrome in 38 cases, a pyramidal
syndrome in 18 cases, forced head position in
15 cases, paresis of the VIth cranial nerve in
eight cases, and paresis of the VIIth cranial
nerve in five cases. Five children were comatose.
Remarkably, fundoscopic examination was nor-
mal in nearly half the cases. The symptoms had
appeared 1 week to 6 months before diagnosis,
with a mean delay of 1 month, reflecting rapid
tumor growth.
Skull films showed split sutures in all but
five cases. Convolutional markings of the vault
or pressure changes of the sella turcica were
present in only 11 cases. Posterior fossa asym-
metry and calcifications were not seen.
The CT appearance of medulloblastoma has
been described in numerous reports (3, 10, 19,
24, 29, 33). In our series, the medulloblastoma
was located in the cerebellum in all but one of
the 59 cases. Most often (52 cases) the tumor
was grossly median and large. The size of the
tumor exceeded 3 cm in all cases but one, 4 cm
in half the cases. The lesion was generally round
or oval with apparently well-defined limits
(Figs. 6.1, 6.2, 6.6, 6.8); occasionally it had a
fragmented appearance or lobulated contours
(Fig. 6.4). The spontaneous density of the me-
dulloblastoma was generally slightly higher than
that of the surrounding brain (Fig. 6.6). Small
intratumoral hemorrhages (four cases) (Fig. 6.8)
or calcifications (five cases) (Fig. 6.5) were rela-
tively rare. After contrast enhancement most of
the medulloblastomas showed a definite in-
crease in density. The tumor blush was usually
257
homogeneous (Fig. 1,6.1,6.6,6.8). In only nine
cases was the increase in density of the tumor
after contrast enhancement only moderate or
absent (Fig. 6.3). In ten cases CT revealed small
intratumoral areas without contrast enhance-
ment which were found at operation to corre-
spond to necrotic foci (Fig. 6.9), and in four
cases there were intra tumoral cysts (Fig. 6.4),
which were particularly large in one case.
All intracerebellar tumors led to compres-
sion of the fourth ventricle with obstructive hyd-
rocephalus. Frequently the fourth ventricle was
no longer identifiable. Appreciation of tumoral
extension into the floor of the fourth ventricle
was generally impossible on CT. In our study,
30% of the tumors reached the occipital vault
or were separated from it only by a thin layer
of tissue of edematous density, suggesting exten-
sion into the vallecula and the cisterna magna.
In no case did the tumor extend below the fora-
men magnum into the cervical spinal canal. In
five cases the tumor was located predominantly
in a cerebellar hemisphere. Tumoral extension
into the cerebellopontine angle (two cases) and
into the occipital interhemispheric fissure (one
case) was exceptional.
Intraventricular or intracranial subarach-
noid tumoral seeding could be detected in only
three observations at the diagnostic stage. In
one particular case, a girl of 7 years with signs
of increased intracranial pressure and meningeal
signs - CT revealed three small, dense nodules
in the pericerebellar and suprasellar cisterns and
moderate ventricular dilatation, and myelogra-
phy showed numerous metastases along the spi-
nal canal (Fig. 6.11).
Arteriography and ventriculography are no
longer indicated in the preoperative workup of
medulloblastomas.
Treatment of medulloblastoma includes op-
eration and radiotherapy. Chemotherapy seems
to improve the survival rate (7,11). Neurosurgi-
cal operation remains incomplete in up to 50%
of the cases because of tumor extension into
the floor of the fourth ventricle. Radiotherapy
covers not only the posterior fossa, where the
maximal dose is delivered, but also the entire
central nervous system, because of the risk of
metastases.
258
The 5-year survival rate has definitely im-
proved and stands at around 50%~60% (4, 16,
17,23) in recent series, but the quality of surviv-
al remains poor in most cases. Most of the chil-
dren show mental and behavorial disturbances
(17) and many have a short stature owing to
residual deficiency of growth hormone (8).
Postoperative surveillance of medulloblas-
toma is clinical and, essentially, radiologic (10,
12, 18, 28). In our series, follow-up CT scans
were systematic at regular intervals to eliminate
intercurrent complications.
In the immediate postoperative period CT
was performed to detect acute operative compli-
cations such as intracranial hemorrhage and
acute hydrocephalus. No hematoma indicating
surgical evacuation was found in our series. In
three cases dilatation of the lateral ventricles
had progressed, indicating persisting blockage
of the CSF pathways. Edematous appearance
of the posterior fossa in the days following oper-
ation interfered with exact identification of the
surgical defect, the fourth ventricle, the cisterns,
and any possible tumoral residue.
The first systematic CT scan was done about
15 days after operation to evaluate the size and
location of residual tumor. When possible it was
combined with myelography to detect any in-
traspinal metastases (Fig. 6.11 e), which are
found in about 20%~68% of patients (9, 22).
Further follow-up scans were performed
3 months after operation and then every
12 months.
Tumor recurrence in situ was observed in
five cases, and was generally associated with me-
tastases along the CSF pathways. Intracranial
metastases were observed in 12 cases; most of-
ten they were located in the region of the third
ventricle (Fig. 6.7) and the anterior part of the
frontal and temporal lobes (Figs. 6.8, 6.10)
where shielding of the eyes may cause underdo-
sage of irradiation (18). In one case, CT 19 years
after treatment revealed three supratentorial tu-
mors that at operation proved to be meningio-
mas apparently induced by radiotherapy (15).
Persisting moderate ventricular enlargement
was usually present. Cerebral complications of
radiotherapy, such as mineralizing microangio-
pathy, were frequent (see Sect. 8.31).
Intracranial Tumors
References
1. Bailey P, Cushing H (1925) Medulloblastoma cere-
belli. A common type of midcerebellar glioma of
childhood. Arch Neurol Psychiat 14: 192-224
2. Belamaric J, Chau AS (1969) Medulloblastoma in
newborn sisters. Report of 2 cases. J Neurosurg
30:76-78
3. Bilaniuk LT, Zimmerman RA, Schut L et al. (1981)
Tomodensitometrie des tumeurs cerebrales sous-ten-
torielles chez l'enfant. J Neuroradiology 8: 229-242
4. Bloom HJO, Wallace ENK, Henk JM (1969) The
treatment and prognosis of medulloblastoma in chil-
dren. A study of 82 verified cases. Am J Roentgenol
105:43-62
5. Brutschkin P, Calvin G (1973) Extracranial metas-
tases from medulloblastomas. Radiology 107:
359-362
6. Chatty EM, Earle KM (1971) Medulloblastoma. A
report of 201 cases with emphasis on the relation-
ship of histologic variants to survival. Cancer
28:977-983
7. Christ WM, Ragab AH, Vietti TJ et al. (1976) Che-
motherapy of childhood medulloblastom~. Am J
Dis Child 130: 639-642
8. Czernichow P, Cachin 0, Rappaport R et al. (1977)
Sequelles endocriniennes des irradiations de la tete
et du cou pour tumeurs extracraniennes. Arch Fr
Pediatr 34: 154-164
9. Deutsch M, Reigel DH (1980) The value ofmyelog-
raphy in the management of childhood medulloblas-
toma. Cancer 45: 2194-2197
10. Diebler C, Merland JJ, Grosvalet A et al. (1980)
CT scan contribution to the diagnosis of intracranial
tumors and mass lesions in infancy and childhood.
Prog Pediat Radiol 7: 1-99
11. Edwards DR, Levin VA, Seager ML et al. (1981)
Intrathecal chemotherapy for leptomeningeal dis-
semination of medulloblastoma. Child's Brain
8:444-451
12. Enzman DR, Norman D, Levin V et al. (1978) Com-
puted tomography in the follow-up of medulloblas-
tomas and ependymomas. Radiology 128: 57-63
13. Farwell JR, Dohrmann GL, Flannery JT (1977)
Central nervous system tumors in children. Cancer
40: 3123-3132
14. Farwell JR, Dohrmann GJ, Flannery JT (1984) Me-
dulloblastoma in childhood: an epidemiological
study. J Neurosurg 61 : 657-664
15. Gomori JM, Shaked A (1982) Radiation induced
meningiomas. Neuroradiology 23: 211-212
16. Hardy DO, Hope-Stone HF, McKenzie GG et al.
(1978) Recurrence of medulloblastoma after mono-
genous field radiotherapy. Report of 3 cases. J Neu-
rosurg 49: 434-440
17. Hirsch JF, Renier D, Czernichow P et al. (1979) Me-
dulloblastoma in childhood. Survival and functional
results. Acta Neurochir 48: 1-15
Medulloblastoma
18. Jereb B, Sundaresan N, Horten B et al. (1981) Su-
pratentorial recurrences in medulloblastoma. Can-
cer 47: 806-809
19. Kingsley DPE, Harwood-Nash DC (1984) Parame-
ters of infiltration in posterior fossa tumours of
childhood using a high resolution CT -Scanner. Neu-
roradiology 26: 347-350
20. Kleinman GM, Hochberg FH, Richardson EP
(1981) Systemic metastases from medulloblastoma:
Report of 2 cases and review of the literature. Can-
cer 48: 2296-2309
21. Koos WT, Miller MH (1971) Intracranial tumors
of infants and children. Thieme, Stuttgart
22. Liebner £1, Pretto JI, Hochhauser M et al. (1964)
Tumors of the posterior fossa in childhood and ado-
lescence. Their diagnostic and radiotherapeutic pat-
terns. Radiology 82: 193-201
23. McFarland DR, Horwitz H, Saenger EL et al.
(1969) Medulloblastoma - a review ofprogn"osis and
survival. BJ Radiol42: 198-214
24. Naidich TP, Lin JP, Leeds NE et al. (1977) Primary
tumors and other masses of the cerebellum and
fourth ventricle: differential diagnosis by computed
tomography. Neuroradiology 14: 153-174
25. Palacios E, Shannon M, Fine M (1979) Unusual
metastases from medulloblastoma: case report.
Neuroradiology 17: 219-222
Fig. 6.1 a-c. An 11-year-old boy presenting signs of in-
creased intracranial pressure and a cerebellar syndrome.
CT with contrast enhancement: large tumor of the cere-
bellar vermis presenting apparently well-defined con-
259
26. Papadakis N, Millan J, Grady DF et al. (1971) Me-
dulloblastoma of the neonatal period and early in-
fancy. Report of 2 cases. J Neurosurg 34: 88-90
27. Pearl GS, Takei Y (1981) Cerebellar "neuroblas-
toma". Nosology as it relates to medulloblastoma.
Cancer 47: 772-779
28. Pearson ADJ, Campbell AN, McAllister VL et al.
(1983) Intracranial calcifications in survivors of
childhood medulloblastoma. Arch Dis Child
58:133-136
29. Probst FP, Liliequist B (1979) Assessment ofposte-
rior fossa tumors in infants and children by means
of computed tomography. Neuroradiology 18:
9-18
30. Rorke LB (1983) The cerebellar medulloblastoma
and its relationship to primitive neuroectodermal tu-
mors. J N europathol Exp N eurol 42: 1-15
31. Russell DS, Rubinstein LJ (1971) Pathology of tu-
mours of the nervous system, 3rd edn. Arnold, Lon-
don
32. Taboada D, Froufe A, Alonso A et al. (1980) Con-
genital medulloblastoma. Report of 2 cases. Pediat
RadioI9:5-10
33. Zimmerman RA, Bilaniuk LT, Pahlajani H (1978)
Spectrum of medulloblastomas demonstrated by
computed tomography. Radiology 128: 137-141
tours and a homogeneous structure. The central part
of the fourth ventricle is compressed, invisible. Opera-
tion: medulloblastoma adhering to the floor of the
fourth ventricle
260
Fig.6.2a--c. A 4-year-old boy with signs of increased
intracranial pressure, papilledema, paresis of the right
VIth cranial nerve. CT with contrast enhancement: large
homogeneous tumor located in the cerebellar vermis ex-
Fig. 6.3 a, b. A 5-year-old boy with signs of increased
intracranial pressure. CT with contrast enhancement:
relatively small medulloblastoma located in the cerebel-
lar vermis. Contrast enhancement of the tumor is moder-
ate and heterogeneous and the tumor limits are ill-de-
fined, blurred
<l Fig. 6.5. An 8-year-old girl presenting signs of increased
Intracranial Tumors
tending into the vallecula and the cisterna magna (a)
and infiltrating the right half of the floor of the fourth
ventricle. Operation: medulloblastoma
Fig. 6.4 a, b. A 6-year-old boy with signs of increased
intracranial pressure, fixed head position and paresis of
the right VIth cranial nerve. CT with contrast enhance-
ment: large, heterogeneous medulloblastoma presenting
two small cysts
intracranial pressure. CT without contrast enhance-
ment: medulloblastoma of the cerebellar vermis present-
ing a large calcification (not visible on plain skull films)
Medullo blastoma 261

Fig. 6.6a--c. A 6-year-old girl, comatose, presenting cere-

bellar and pyramidal signs and fixed head position. CT
before (a) and after (b) contrast enhancement: large tu-
mor of the cerebellar vermis suggesting the diagnosis
of medulloblastoma. Treatment was conservative be-
cause of the desperate clinical condition of the patient;
it consisted of shunt operation and radiotherapy. Diag-
nosis was confirmed by isolation of tumoral cells in the
CSF. Follow-up CT scan 4 months after radiotherapy
(c) shows a small residual calcification in the region of
the fourth ventricle, but the tumor has vanished. The
patient presents severe neurologic sequelae

Fig.6.8a-d. A 6-year-old boy with signs of increased

Fig.6.7a-d. A 15-year-old boy; operation and radio-
therapy for medulloblastoma at the age of 10 years. Sys-
tematic follow-up CT with contrast enhancement: small
tumor recurrence along the left border of the operative
defect (a), a large metastasis in the third ventricle (b,
c), and a small metastasis along the left frontal horn
(d)
intracranial pressure and cerebellar syndrome. CT be-
fore (a) and after (b) contrast enhancement: large tumor
of the cerebellar vermis with a small hemorrhage in its
center (a), showing definite, homogeneous opacification.
Operation reveals medulloblastoma and is comple-
mented by radiotherapy. One year later the patient again
shows signs of increased intracranial pressure, disturbed
consciousness, and asthenia. CT with contrast enhance-
ment: diffuse leptomeningeal spread of the medulloblas-
toma around the cerebellum (c) and in the sylvian and
interhemispheric interfrontal fissures (e, d)
262 Intracranial Tumors

Fig. 6.9a-d. A 4-year-old boy presenting with acute signs Fig. 6.lOa-d. A 9-year-old girl presenting with seizures
of increased intracranial pressure, pyramidal and cere- and asthenia 3 years after treatment for medulloblas-
bellar signs, and disturbances of consciousness. CT with toma. CT with contrast enhancement: multiple metas-
contrast enhancement (a): heterogeneous tumor with tases of medulloblastoma in the sylvian and interhem-
blurred limits located in the cerebellar vermis. Operation ispheric interfrontal fissures and around the midbrain
reveals a medulloblastoma and is complemented by ra-
diotherapy. Nine months after treatment the boy pres-
ents seizures, signs of increased intracranial pressure,
and coma. CT after contrast enhancement (b--d): diffuse
edema of the cerebellum and of the cerebrum; dense,
multiple, polycyclic bands in the cerebral hemispheres;
compression and deformation of the lateral ventricles.
These lesions suggest not so much tumoral metastases
as diffuse cerebral radionecrosis. The boy died in the
weeks following examination. There was no anatomic
verification
Ependymoma
Fig. 6.11a-e. A 7-year-old girl with meningeal signs and
signs of increased intracranial pressure. CT with contrast
enhancement: small, dense, homogeneous tumors in the
posterior part of the right cerebellar hemisphere (a, b),
6.1.2 Ependymoma
Ependymomas may arise from any part of the
ventricular system, but the region of the fourth
ventricle is the most common site (16). Among
larger series of brain tumors in childhood (9,
10, 13), they represent about 5%-10% of all
brain tumors. About 60%-70% of all ependy-
momas occur below the tentorium (2, 4, 6, 8,
17).
The macroscopic appearance of the ependy-
moma resembles that of a cauliflower, adjusting
in form to the surroundings, i.e., the fourth ven-
tricle and the cisterns of the posterior fossa.
Histologic examination distinguishes several
types varying from benign ependymoma to
malignant ependymoma or ependymoblastoma,
which may be difficult to differentiate from me-
dulloblastoma because of its high cellularity and
263
in the left angle cistern (b, c), and in the suprasellar
cisterns (c). Myelography revealed extremely numerous
intraspinal metastases leading to blockage of the lumbar
canal (e). Biopsy demonstrated medulloblastoma
numerous abnormal mitoses (8, 11, 15). Metas-
tases along the CSF pathways may be observed
especially in the more malignant tumor forms
(14), but have also been seen in apparently be-
nign ependymomas in our series.
The mean age at diagnosis is about 5 years
(6), but there is a clear peak in frequency in
the first 2 years of life (eight of 26 cases in our
personal series) (2, 4, 6) for both ependymomas
and ependymoblastomas. Neonatal cases have
been reported in the literature (1). The male to
female sex ratio is 0.8: 1 for ependymoma and
1.7: 1 for ependymoblastoma.
In our series of 26 cases, the interval between
the onset of the first clinical signs and diagnosis
varied from several days to 2 years, with a mean
of 3 months. The clinical manifestations were
signs of increased intracranial pressure in
25 cases, cerebellar signs in 13 cases, paresis of
264
cranial nerves in 14 cases, fixed head position
in 11 cases, pyramidal signs in six cases, hemi-
plegia in two cases, quadriplegia in two cases,
nystagmus in five cases, and macrocrania in five
cases. Papilledema was noted in 11 cases.
Plain skull films showed signs of chronic in-
creased intracranial pressure - splitting of the
sutures and convolutional markings - in all
cases but three. Neither cranial asymmetry nor
calcifications were noted on skull films in our
series, but both have occasionally been reported
in other series.
CT before contrast enhancement rarely al-
lowed reliable evaluation of tumor size, loca-
tion, and extent (Fig. 6.13 a). The ependymoma
often had the same density as the brain tissue.
Intratumoral areas of edematous density were
noted in 18 cases. Calcifications occurred in half
the cases and were generally small and multiple
(Figs. 6.12, 6.13, 6.16e, f). Contrast enhance-
ment resulted in definite tumor opacification in
all cases. In 11 cases the tumor blush was
grossly homogeneous, outlining clearly defined
margins (Figs. 6.14, 6.18). In the other cases the
blush was uneven with alternating zones of in-
creased density and edematous density, giving
in some cases an indirect reproduction of the
cauliflower appearance of the ependymoma
(Figs. 6.13, 6.16a-d).
Ependymomas of the region of the fourth
ventricle generally had a round or oval configu-
ration with a diameter varying from 1 to 5 em
(Fig. 6.12). In 17 cases the tumor showed exten-
sions into the angle cisterns, the quadrigeminal
cistern, the cisterna magna, and the upper cervi-
cal canal (Figs. 6.12, 6.14, 6.16). In two cases
the tumor location was apparently exclusively
intracisternal (Figs. 6.15, 6.18). No cases of in-
tracranial metastases at the diagnostic stage
were observed in our series. Grossly similar
findings have been noted in other series with
CT examination (3, 5, 12, 17).
Treatment is essentially neurosurgical,
though complete resection of the tumor is fre-
quently impossible because of infiltration of the
floor of the fourth ventricle. Tumor recurrence
in situ is thus relatively frequent. Associated ra-
diotherapy seems to give a significantly longer
survival (6).
Intracranial Tumors
Follow-up CT scans in ependymomas
should be systematic at regular intervals, as in
medulloblastoma, to detect tumor recurrence
and iatrogenic complications (7).
In half the cases with partial removal of the
tumor - generally because of tumoral spread
into the brain stem - significant tumor growth
was observed after an apparently symptom-free
period varying from 3 to 42 months. Worsening
of the clinical condition was generally due to
extension into the brain stem or obstruction of
the fourth ventricle. Reoperation in the latter
cases usually resulted in significant improve-
ment of the clinical condition.
Intracranial metastasis in posterior fossa
ependymoma is relatively rare and was observed
in only one case in our series. Metastases along
the spinal canal were observed in six cases at
relatively short intervals after operation Qf the
posterior fossa tumor; this indicates the useful-
ness of systematic myelography (14).
References
1. Abbott M, Namiki H (1968) Congenital ependy-
moma. J Neurosurg 28:162-165
2. Bessa E (1984) Les ependymomes de I'enfant. A pro-
pos d'une serie de 92 cas observes a I'I.G.R. These,
Paris Pitie-Salpetriere
3. Bilaniuk LT, Zimmerman RA, Scheet L et al. (1981)
Tomodensitometrie des tumeurs sous-tentorielles
chez l'enfant. J Neuroradiology 8: 229-242
4. Coulon RA, Till K (1977) Intracranial ependymo-
mas. A review of 43 cases. Child's Brain 3: 154-168
5. Diebler C, Merland 11, Grosvalet A et al. (1980)
CT -Scan contribution to the diagnosis of intracrani-
al tumors and mass lesions in infancy and child-
hood. Prog Pediatr Radiol 7: 1-99
6. Dohrman GJ, Farwell JR, Flannery JT (1976) Epen-
dymomas and ependymoblastomas in children. J
Neurosurg 45: 273-282
7. Enzmann DR, Norman D, Levin V (1978) Com-
puted tomography in the follow-up of medulloblas-
tomas and ependymomas. Radiology 128: 57-63
8. Fokes EC Jr, Earle KM (1969) Ependymomas: clini-
cal and pathological aspects. J Neurosurg 30: 585-
594
9. Heiskanen 0 (1977) Intracranial tumors of children.
Child's Brain 3: 69-78
10. Koos WT, Miller MH (1971) Intracranial tumors
of infants and children. Thieme, Stuttgart
11. Mei Liu H, Boggs J, Kidd J (1976) Ependymomas
of childhood. Child's Brain 2: 92-11 0
Ependymoma 265

12. Naidich TP, Lin JP, Leeds NE et al. (1977) Primary
tumors and other masses of the cerebellum and
fourth ventricle: differential diagnosis by computed
tomography. Neuroradiology 14:153~174
13. Odom GL, Davis CH, Woodhall B (1956) Brain
tumors in children. Pediatrics 18: 856-869
14. Renaudin JW, Tullio MVP, Brown J (1979) Seeding
of intracranial ependymomas in children. Child's
Brain 5: 408-412
15. Rubinstein LJ (1970) The definition of ependymob-
lastoma. Arch Pathol 90 :35-45
16. Russell DS, Rubinstein LJ (1971) Pathology of tu-
mours of the nervous system, 3rd edn. Arnold, Lon-
don
17. Svartz JO, Zimmerman RA, Bilaniuk LT (1982)
Computed tomography of intracranial ependymo-
mas. Radiology 143:97~101

Fig. 6.12a-c. A 4-year-old girl with signs of increased right angle cistern (b). The tumor presents multiple small
intracranial pressure. CT after contrast enhancement: calcifications, moderate contrast enhancement and a
tumor extending from the foramen magnum (a) to the large cyst (b, c). Operation: ependymoma

Fig.6.13a-d. A 5-month-old boy with macrocrania,

signs of increased intracranial pressure, and sudden
coma. CT before (a) and after (b-d) contrast enhance-
ment: large ependymoblastoma extending from the
fourth ventricle to the posterior third ventricle (d) and
into the left angle cistern (b). The tumor presents a large
calcification (a) and definite irregular contrast enhance-
ment simulating the cauliflower appearance of ependy-
moma
266 Intracranial Tumors

Fig. 6.14a-c. A 14-month-old boy presenting with mac- from the foramen magnum to the aqueduct and the left
rocrania, signs of increased intracranial pressure, torti- angle cistern. The tumor shows intense and relatively
collis, and paresis of the left VI and VIIth cranial nerves. homogeneous contrast enhancement
CT after contrast enhancement: large tumor extending

Fig. 6.15a-c. A 6-year-old girl with signs of increased irregular tumoral infiltration along the right side of the
intracranial pressure, left hemiparesis, right mydriasis, brain stem and the right angle cistern, which are ob-
and oculomotor paresis. CT after contrast enhancement: structed and dilated. Operation: ependymoma
Ependymoma
Fig. 6.16a-f. A 2-year-old girl with signs of increased
intracranial pressure, papilledema, and ataxia. CT after
contrast enhancement (a-d): dense heterogeneous tumor
extending from the upper cervical canal (a) to the angle
cisterns (b) and the aqueduct (d). Operation confirmed
267
SuspIcIOn of ependymoma and was complemented by
irradiation. Eighteen months later the girl showed a
large tumor recurrence (e, f) which was judged inopera-
ble
268
<l Fig. 6.17 a-f. A 5-year-old boy presenting with progres-
6.1.3 Cerebellar Astrocytoma
Cerebellar astrocytomas are predominantly tu-
mors of early life (4). They are usually circum-
scribed tumors with a tendency to be cystic (15).
Cerebellar astrocytomas have the most favor-
able prognosis of all types of brain tumors in
childhood. An unfavorable evolution may be
observed in a small number of patients, and a
statistical correlation between histology and
evolution has been demonstrated (7):
Intracranial Tumors
sive left-sided hemiparesis. CT after contrast enhance-
ment (a, b): large dense tumor of the right frontal region.
Operation: benign ependymoma. No irradiation. Two
years later he presented with signs of increased intracra-
nial pressure and ataxia. CT (c, d): large tumoral metas-
tasis in the posterior fossa (c) and persisting small, dcnse
nodule in the right frontal region. Resection of the poste-
rior fossa tumor, radiotherapy. CT 3 years after onset
reveals recurrence of the frontal tumor with infiltration
of the corpus callosum (e, f)
Fig. 6.18 a, b. An ll-year-old boy with signs of increased
intracranial pressure, torticollis, nystagmus, cerebellar
syndrome, and paresis of the left VIIth cranial nerve.
CT after contrast enhancement: dense homogeneous tu-
mor of the left angle cistern simulating a large acoustic
neurinoma. Operation: ependymoma
Cases with microcysts, leptomeningeal depos-
its, Rosenthal fibers, and oligodendroglial
fibers clustered together (glioma A) have 94%
10-year survival.
Cases with pseudorosettes, high cell density,
necrosis, mitosis, and calcifications (glio-
ma B) have 29% 10-year survival.
The correlation of histology with prognosis
does not always hold in individual cases:
A local malignant course due to extreme lep-
tomeningeal spread has been observed in "be-
nign" cerebellar astrocytoma (2).
Cerebellar Astrocytoma
- Spinal seeding has been seen in microcystic
astrocytoma (16).
- Malignant transformation has been reported
in one exceptional case (1).
- Local recurrence may lead to repeat opera-
tions (5, 9).
Diffuse noncystic astrocytomas are infre-
quent in childhood (15); they may be highly
infiltrative and impossible to resect completely,
and thus have a high risk for recurrence (11).
In a personal series of 46 cases, the age
ranged from 9 months to 16 years (mean
~ 7 years) and there was slight male predomi-
nance (26 boys vs 20 girls). Three children had
neurofibromatosis. All patients had signs of in-
creased intracranial pressure and 31 had papille-
dema. A cerebellar syndrome was noted in
43 cases, torticollis in 11 cases, pyramidal signs
in 11 cases, cranial nerve paresis in five cases,
nystagmus in five cases, visual loss in five cases,
and hemiparesis in two cases. In one case minor
symptoms were noted 3 years before diagnosis,
but generally the interval between the first signs
and diagnosis was shorter (mean about
4 months).
Plain skull films showed split sutures and
brain markings on the vault in nearly all cases.
Pressure changes of the sella were seen in
12 children. In ten cases there was obvious
asymmetry with thinning of the vault of the pos-
terior fossa (Fig. 6.22b), and in six cases calcifi-
cations projected into the posterior fossa.
CT is currently the most precise examination
in the diagnosis of cerebellar astrocytomas, as
shown in numerous reports (3, 6, 10, 13, 14,
17).
On CT the tumor size was large, with a max-
imal diameter exceeding 3 cm in all cases. The
tumor, even when predominantly unilateral,
thus reached the vermis or crossed the midline
in most cases. A portion of the tumor was gener-
ally superficial, in contact with the meninges or
the cisterns. The fourth ventricle was com-
pressed and displaced anteriorly or laterally in
all cases. In 11 cases a predominantly lateral tu-
mor seemed to be in contact with the posterior
wall of the petrous pyramid and the angle
cistern.
269
Tumor density before contrast enhancement
was mostly of the edematous type, and precise
differentiation of the tumor from a cyst was dif-
ficult. In all cerebellar astrocytomas, contrast
injection led to a definite increase in density,
except in two cases where only a large cyst was
detectable (Fig. 6.19). A tumoral cyst existed in
40 of the 46 cases. Three types of CT appear-
ance were observed particularly frequently:
- A single, dense tumor nodule, generally of
small size, located at the periphery of a large
cyst (14 cases; Figs. 6.20-6.23).
- A large, irregular tumor surrounded by sever-
al or numerous cysts (13 cases; Figs. 6.25-
6.27).
- A central cyst surrounded by tumoral walls
(13 cases Figs. 6.20, 6.24). Tumoral infiltra-
tion could be limited to a portion of the cyst
walls or extend to the whole cyst though pre-
cise delimitation seems impossible.
The cysts always had a spontaneous density
slightly higher than that of the CSF. Secretion
of contrast material into the cyst occurred in
six cases (Fig. 6.25 a).
Intratumoral calcifications were observed in
six cases (Fig. 6.21). Solid cerebellar astrocyto-
mas, though representing up to 40% of all cases
in some series (8, 12), were observed in only
six cases in our series. They were mostly clearly
lateral and showed definite contrast enhance-
ment. Their outlines were well defined in three
cases, blurred in the other three (Fig. 6.28).
In all cases we observed clear dilatation of
the third and lateral ventricles.
Treatment of cerebellar astrocytoma is es-
sentially neurosurgical, with complete resection
of the tumor whenever possible. In cases of par-
tial resection irradiation may increase the re-
lapse-free survival rate (9,11).
Follow-up CT scans may be indicated in the
immediate postoperative period to rule out
acute operative complications. Later CT scans
may detect persisting or evolutive hydrocepha-
lus and tumor recurrence, which may remain
clinically quiescent for a long period (5). Small
dense masses at the border of the operative cavi-
ty may correspond to reactional tissue and not
necessarily to tumor recurrence (5).
270
References
1. Alpers CE, Davis RL, Wilson CB (1982) Persistence
and late malignant transformation of childhood cer-
ebellar astrocytoma. J Neurosurg 57: 548-551
2. Auer RN, Rice GPA, Hinton GG et al. (1981) Cere-
bellar astrocytoma with benign histology and malig-
nant clinical course. J Neurosurg 54: 128-132
3. Bilaniuk LT, Zimmerman RA, Scheet L et al. (1981)
Tomodensitometrie des tumeurs sous-tentorielles
chez l'enfant. J Neuroradiology 8: 229-242
4. Bucy PC, Thieman PW (1968) Astrocytomas of the
cerebellum. Arch NeuroI18:14-18
5. Davis CH, Joglekar VM (1981) Cerebellar astrocy-
tomas in children and young adults. J Neurol Neu-
rosurg Psychiatry 44: 820-828
6. Diebler C, Merland n, Grosvalet A et al. (1980)
CT -Scan contribution to the diagnosis of intracrani-
al tumors and mass lesions in infancy and child-
hood. Prog Pediatr Radiol 7: 1-99
7. Gilles FH, Winston K, Fulchiero A et al. (1977)
Histological features and observational variations in
cerebellar gliomas in children. J Nat! Cancer Inst
58:175-181
8. Gol A (1963) Cerebellar astrocytoma in children.
Am J Dis Child 106:55-58
9. Griffin TW, Beaufait D, Blasko JC (1979) Cystic
Fig. 6.19 a, b. A 6-year-old girl with signs of increased
intracranial pressure and ataxia. CT with contrast en-
hancement: cystic mass located in the region of the cere-
bellar vermis and left hemisphere. There is no clear tu-
moral mass or tumoral infiltration of the cyst walls. Op-
eration: astrocytoma with tumoral infiltration of the an-
terior walls of the cyst
Intracranial Tumors
cerebellar astrocytomas III childhood. Cancer
44:276-280
10. Kingsley DPE, Harwood-Nash DC (1984) Parame-
ters of infiltration in posterior fossa tumors of child-
hood using a high resolution CT-Scanner. Neurora-
diology 26: 347-350
11. Leibel SA, Sheline GE, Wara WM et al. (1975) The
role of radiation therapy in the treatment of astrocy-
tomas. Cancer 35:1551-1557
12. Matson DD (1969) Cerebellar astrocytoma. In:
Neurosurgery of infancy and childhood, 2nd edn.
Thomas, Springfield, pp 436-448
13. Naidich TP, Lin JP, Leeds NE et al. (1977) Primary
tumors and other masses of the cerebellum and
fourth ventricle: Differential diagnosis by computed
tomography. Neuroradiology 14:153-174
14. Probst FR, Liliequist B (1979) Assessment ofposte-
riar fossa tumors in infants and children by means
of computed tomography. Neuroradiology 18: 9-18
15. Russell DS, Rubinstein LJ (1977) Pathology of tu-
mours of the nervous system, 4th edn. Arnold, Lon-
don
16. Shapiro K, Shulman K (1976) Spinal cord seeding
from cerebellar astrocytomas. Child Brain 2: 177-
186
17. Zimmerman RA, Bilaniuk LT, Bruno L et al. (1978)
Computed tomography of cerebellar astrocytoma.
Am J Roentgenol 130: 929-933
Fig. 6.20 a, b. A 7-year-old boy with ataxia, nystagmus,
and signs of increased intracranial pressure. CT with
contrast enhancement: cystic astrocytoma with mural
tumor infiltrating the totality of its walls and central
cyst
Cerebellar Astrocytoma 271

Fig. 6.21 a, b. A 9-year-old boy with signs of increased

intracranial pressure. Skull films: large calcifications in
the left part of the posterior fossa, split sutures. CT:
calcified tumor of the left cerebellar hemisphere with
large cyst extending to the vermian region. Operation:
cystic astrocytoma

Fig. 6.22a--c. A 12-year-old girl presenting signs of in-
creased intracranial pressure and ataxia. CT before (b)
and after (a, c) contrast enhancement: asymmetry of
the posterior fossa with thinning and bulging of the occi-
pital vault of the right cerebellar fossa. A small tumor
of edematous density before enhancement (b) shows in-
tense opacification after enhancement (a, c) and presents
a large cyst in the region of the right cerebellar hemi-
sphere. Operation: cystic astrocytoma

Fig. 6.23 a, b. An ll-year-old boy with signs of increased

intracranial pressure: papilledema, split sutures, convo-
lutional markings on plain skull films. CT with contrast
enhancement: large, dense, homogeneous tumor in the
vermian region (a) and the right cerebellar hemisphere
surrounded by multiple posterior, anterior (a), and later-
al (b) cysts
Fig. 6.24 a, b. A 4-year-old boy with signs of increased
intracranial pressure, ataxia, fixed head position, and
VIth cranial nerve paresis. CT with contrast enhance-
ment: large cystic astrocytoma of the left cerebellar
hemisphere. Multiple intratumoral cysts are separated
by thin, dense, tumoral walls
272
Fig.6.25a-i:. A 5-year-old boy presenting with ataxia
and signs of increased intracranial pressure of progres-
sive appearance for 1 month. CT after contrast enhance-
ment: large, dense tumor of the vermian region with
Fig. 6.26. A 10-year-old girl with signs of increased intra-
cranial pressure. CT after contrast enhancement: dense,
homogeneous astrocytoma of the vermian region pre-
senting irregular contours due to multiple small peri-
pheral cysts
Fig. 6.28a-i:. A 13-year-old boy with neurofibromatosis
presenting signs of increased intracranial pressure,
ataxia, and moderate visual loss. CT with contrast en-
hancement: large infiltrating astrocytoma of the left cer-
Intracranial Tumors
two posterolateral cysts (a) and an anterior cyst bulging
through the foramen ovale, compressing the posterior
third ventricle. Secretion of contrast material into the
anterior cyst and one of the posterior cysts
Fig. 6.27 a, b. A 4-year-old boy with signs of increased
intracranial pressure, unilateral cerebellar syndrome,
and paresis of the right VIth and VIIth cranial nerves.
CT with contrast enhancement: essentially solid, dense,
homogeneous astrocytoma of the right cerebellar hemi-
sphere extending to the right angle cistern. The brain
stem is compressed and displaced to the left
ebellar hemisphere. The tumor is dense and grossly ho-
mogeneous in appearance, its limits are blurred. Small
glioma of the optic chiasma (b, c)
Dermoid Cyst
6.1.4 Dermoid Cyst
Dermoid cysts arise from ectopic intracranial
epithelial tissue; their origin is thus congenital,
due to a defect of closure of the neural tube
(3, 5, 6), though appearance of the first clinical
symptoms is usually tardive.
Dermoid cysts are generally midline tumors,
observed in the posterior fossa, the region of
the nasion, and the region of the cauda equina
(2). They are associated in more than half the
cases with congenital abnormalities, especially
with a small porus in the overlying skin (4).
Dermoid cysts contain elements of dermal cell
layers, such as hair and sebaceous glands, and
may thus be distinguished from epidermoid
cysts or cholesteatomas composed of epidermal
cell debris rich in cholesterol, which are essen-
tially observed in adulthood (1).
Dermoid cysts are most frequently diag-
nosed in childhood. Sometimes the diagnosis is
suggested by a cutaneous fistula which may be
surrounded by abnormal pigmentation or by a
small cluster of hair and which is located in
the occipital or lumbar region. Frequently the
dermoid cyst is revealed by recurring meningitis,
as in three personal observations.
Skull films may reveal a median defect of
the occipital vault (one personal case).
On CT the dermoid cyst is generally located
in the region of the inferior cerebellar vermis.
Its density is usually slightly higher than that
of CSF, but occasionally very low, displaying
the same values as adipose tissue, like epider-
moid cysts. After contrast enhancement the der-
Fig. 6.29 a, b. An 11-month-old boy with staphylococcus
meningitis at the age of 9 and 11 months, signs of in-
creased intracranial pressure. CT with contrast enhance-
ment: double dermoid cyst of the region of the inferior
cerebellar vermis. The cysts have a slightly higher density
than the CSF and are surrounded by a thin dense rim.
The compressed fourth ventricle is detectable in b; small
osseous defect of the midline seen partially in b
273
moid cyst may present a dense rim in cases with
meningitis, corresponding to inflammatory tis-
sue (Fig. 6.29). In three personal observations
CT revealed a small osseous defect of the occipi-
tal vault (Fig. 6.30), which was not detectable
on plain skull films in two observations. The
size of the dermoid cyst varied from several mil-
limeters to 4 cm. Ventricular dilatation was gen-
erally related to repeated bacterial meningItis
with blockage of the basal cisterns, not to the
size of the cyst.
Direct opacification of the cutaneous fistula
or even lumbar puncture near a dermoid cyst
of the cauda equina region may lead to catas-
trophic septic complications and are thus con-
traindicated.
Treatment of dermoid cysts is neurosurgical,
with resection of the cyst and shunt operation.
References
1. Berger MS, Wilson CB (1985) Epidermoid cysts of
the posterior fossa. J Neurosurg 62:214-219
2. Cantu RC, Wright RL (1968) Aseptic meningitic syn-
drome with cauda equina epidermoid. J Pediatr
73:114-116
3. Fawcitt RA, Isherwood I (1976) Radiodiagnosis of
intracranial pearly tumors with particular reference
to the value of computer tomography. Neuroradio-
logy 11 : 235-242
4. McCarty CS, Leavens ME, Love JG et al. (1959) Der-
moid and epidermoid tumors in the central nervous
system of adults. Surg Gynecol Obstet 108: 191-198
5. Tan Ti (1972) Epidermoids and dermoids of the cen-
tral nervous system. Acta Neurochir 26: 13-24
6. Toglia JU, Netsky MG, Alexander E Jr (1965) Epi-
thelial (epidermoid) tumors of the cranium. J Neu-
rosurg 23: 384-393
274
Fig. 6.30a-c. A 6-month-old girl with a history of two
episodes of pneumococcus meningitis, rapidly evolutive
macrocrania, and a small median occipital fistula. CT
6.1.5 Rare Tumors of the Cerebellum and
Fourth Ventricle
6.1.5.1 Hemangioblastoma
Hemangioblastomas are rare in childhood.
They may form part of von Hippel-Lindau dis-
ease, involving in the complete form the retina,
the kidney, and the pancreas (4). Seven cases
have been reported in three large series of intra-
cranial tumors in childhood (3, 5, 7). In our
series, we have observed two cases of posterior
fossa hemangioblastoma located in the cerebel-
lum and the brain stem (see Sect. 6.1.6).
The CT appearance of hemangioblastoma
may mimic that of cystic astrocytoma, with a
mural tumoral nodule. The nodule is generally
smaller than in cystic astrocytoma (6), some-
times so small that it is not detected on CT.
After contrast enhancement it shows a clear in-
crease in density (Fig. 6.31). Angiography re-
veals the vascular nature of the tumor and
sometimes shows small nodules not detected on
CT (2).
6.1.5.2 Cerebellar Sarcoma
Cerebellar sarcomas are not exceptional in
childhood, but occur predominantly in adoles-
cence and early adulthood (9). Frequently, as
in our series, they are grouped with medullo-
blastomas.
Intracranial Tumors
with contrast enhancement: occipital osseous defect (a),
a small underlying dermoid cyst of the inferior cerebellar
vermis, and marked ventricular dilatation
In a series of seven cases with CT examina-
tion (6), the tumor was most often located in
one cerebellar hemisphere, extending to its sur-
face. Presenting brain density before contrast
enhancement, it showed definite and homoge-
neous increase in density and ill-defined limits
after contrast enhancement.
6.1.5.3 Cerebellar Neuroblastoma
Neuroblastoma is a rare tumor of infancy and
childhood (1) which in many aspects resembles
medulloblastoma, with which it shares a primi-
tive, multi potential appearance of the cells and
high malignancy. Distinction is based essentially
on the location of the tumor - neuroblastomas
are predominantly supratentorial - and on
histologic examination showing neuroblastic
differentiation. Cerebellar neuroblastomas are
extremely rare (8), though medulloblastomas
may sometimes show fragments of neuroblastic
differentiation (9).
In a personal case, an 18-month-old girl pre-
sented with a syndrome suggestive of dience-
phalic cachexia. CT revealed ill-defined areas
of edematous density and of increased density
and small calcifications in the two cerebellar
hemispheres. The mass effect was moderate,
with slight compression of the fourth ventricle.
After contrast enhancement, part of the tumor
showed a definite increase in density (Fig. 6.32).
Angiography showed a clear tumoral blush.
Rare Tumors of the Cerebellum and Fourth Ventricle
Operation was limited to biopsy because of
extreme infiltration of the two cerebellar hemi-
spheres. Despite radiotherapy and chemothera-
py the patient died 4 months later.
6.1.5.4 Cerebellar Metastases
Cerebellar metastatic lesions are rare in child-
hood. In our series we have observed cerebellar
metastases in one case each of Ewing's tumor
and Wilm's tumor.
6.1.5.5 Papilloma of the Fourth Ventricle
Papillomas of the fourth ventricle are rare in
childhood, where papillomas essentially arise
from the lateral ventricles, in contrast to adults.
Only six papillomas have been reported in three
large series of intracranial tumors in childhood
(3, 5, 7).
6.1.5.6 Histiocytosis X
Involvement of the central nervous system is
not exceptional in histiocytosis X, but tumoral
lesions are only rarely observed (see Sect. 8.2).
In a personal case concerning a boy aged
7 years, the diagnosis of histiocytosis X was
made at the age of 3 years in the presence of
multiple skeletal lesions. At the age of 5 years
the patient showed signs of increased intracrani-
al pressure and was operated on for a vermian
tumor which turned out to be an eosinophilic
Fig. 6.31 a, b. A 15-year-old boy with signs of increased
intracranial pressure, nystagmus, cerebellar syndrome,
and a moderate increase in RBC count. CT after con-
trast enhancement: cystic tumor of the right cerebellar
hemisphere with a small dense nodule against the occipi-
tal vault. Operation: hemangioblastoma
275
granuloma. Two years later he again showed
signs of increased intracranial pressure and CT
revealed tumor recurrence. On enhanced CT the
tumor was located in the cerebellar vermis and
was round, well delineated, very dense, and ho-
mogeneous (Fig. 6.33).
References
1. Bennett JP, Rubinstein LJ (1984) The histological be-
havior of primary cerebral neuroblastoma: a reap-
praisal of the clinical course in a series of 70 cases.
Ann NeuroI16:21-27
2. Cornell SH, Hibri NS, Menezes AH et al. (1979) The
complementary nature of computed tomography and
angiography in the diagnosis of cerebellar heman-
gioblastoma. Neuroradiology 17: 201-205
3. Heiskanen 0 (1977) Intracranial tumors of children.
Childs Brain 3: 69-78
4. Jeffrey R (1975) Clinical and surgical aspects of pos-
terior fossa hemangioblastoma. J Neurol Neurosurg
Psychiatry 38: 105-111
5. Koos TW, Miller MH (1971) Intracranial tumors of
infants and children. Thieme, Stuttgart
6. Naidich TP, Lin JP, Leeds NE et al. (1977) Primary
tumors and other masses of the cerebellum and fourth
ventricle: differential diagnosis by computed tomog-
raphy. Neuroradiology 14: 153-174
7. Odom GL, Davis CH, Woodhall B (1956) Brain tu-
mors in children. Pediatrics 18: 856-869
8. Pearl GS, Takei Y (1981) Cerebellar neuroblastoma.
Cancer 47: 772-779
9. Russell DS, Rubinstein LJ (1977) Pathology of tu-
mours of the nervous system, 4th edn. Williams and
Wilkins, Baltimore
276
Fig. 6.32a-d. An 1S-month-old girl with signs of dience-
phalic cachexia. CT before (a, b) and after (c, d) contrast
enhancement: areas of increased density alternating with
areas of edematous density in the two cerebellar hemi-
spheres, presence of a small calcification in the right
cerebellar hemisphere (b). Clear increase in density of
a part of the tumor after injection of contrast material.
Operation: neuroblastoma
6.1.6 Tumors of the Brain Stem
Tumors of the brain stem are most frequent in
infancy and childhood, and represent
10%-15% of the brain tumors in this age group
(6,9,11). The majority are neuroepithelial; as-
trocytoma and glioblastoma represent respec-
tively about 60% and 40% in series with verified
cases (9). Spongioblastomas have been observed
in a small number of cases (4, 6).
The clinical symptomatology of tumors of
the brain stem is generally quite typical (5, 9).
The data in our 96 cases coincide largely with
that of large previously published series (5, 6,
9).
The 56 boys and 40 girls in our series varied
in age from 3 months to 16 years, with a mean
of 6 years 10 months. The duration of the symp-
Intracranial Tumors
Fig. 6.33 a, b. A 7-year-old boy with histiocytosis X pre-
senting 2 years after operation for eosinophilic granu-
loma of the cerebellar vermis, recurrence of signs of in-
creased intracranial pressure. CT after contrast enhance-
ment: recurrent tumor appearing as a dense, homoge-
neous, well-delimited mass within the fourth ventricle
toms before diagnosis was generally below
1 month and varied from several days to 4 years
(mean 4 months).
Cranial nerve palsies dominated the clinical
presentation. In decreasing order of frequency
there was involvement of the VIIth nerve
(65 cases), the Vlth nerve (39 cases), the IXth
and Xth nerves (39 cases), the Vth motor nerve
(17 cases), the IIlrd nerve (12 cases), the XIIth
nerve (7 cases), the VIIlth nerve (5 cases), the
Vth sensory nerve (3 cases), and the IVth nerve
(2 cases). Sixty-one patients had a uni- or bilat-
eral pyramidal syndrome, 54 patients had a cer-
ebellar syndrome, 36 had hemiparesis, and five
had tetraparesis. Apparent signs of increased in-
tracranial pressure, such as headache and vom-
iting, existed in 26 cases, but papilledema was
observed in only five cases. Fixed head position
Tumors of the Brain Stem
was observed in nine cases, but was mostly re-
ductible. Behavioral disturbances with either
obnubilation and somnolence or relative hyper-
activity and emotional instability were observed
in 24 cases; spasmodic laughter or crying was
noted in four cases. Nystagmus (15 cases), later-
al deviation of the eyes (five cases), and dystonic
movements (six cases) were less constant neu-
rologic findings. Five children were comatose
at diagnosis.
Skull films were rarely abnormal; they re-
vealed signs of increased intracranial pressure
in six cases and calcifications projecting into the
region of the brain stem in two cases.
Diagnosis of brain stem tumor on CT is
based on two essential signs: the mass effect
and/or the presence of abnormalities of density.
The main evidence of the mass effect in our
experience was the deformation of the normal
contours of the brain stem (7) with increase of
the anteroposterior diameter of the brain stem,
flattening of the fourth ventricle, and compres-
sion of the interpeduncular, prepontine, and an-
gle cisterns. The anteroposterior diameter of the
brain stem varies rapidly on CT depending on
the angulation of the scan chosen in respect to
this structure. Therefore measurement of the an-
teroposterior diameter of the brain stem is of
interest only when the examination has been
performed under optimal conditions.
A mass effect was observed in all our cases,
most often marked (80 cases); it led to dilata-
tion of the third and lateral ventricles by com-
pression of the fourth ventricle or its outlets
in 22 cases (Fig. 6.38). In 65 cases the tumor ap-
parently infiltrated the entire length of the brain
stem from the medulla oblongata to the mid-
brain (Figs. 6.34-6.38), and in 10 cases it ex-
tended into the thalamic region (Figs. 6.37,
6.40). In four cases the larger part of the tumor
was located in the cerebellum or the thalamic
region. Only in eight cases was the tumor lim-
ited to the pons and the medulla oblongata
(Fig. 6.39), in three cases to the medulla oblon-
gata and in four cases to the pons and the mid-
brain (Fig. 6.40a-c).
The mass effect may be difficult to demon-
strate in tumors of the inferior pons and of the
medulla oblongata. In doubtful cases CT with
277
intrathecal injection of contrast material gives
the desired information in outlining precisely
the contours of the brain stem (1) (Fig. 6.35).
The spontaneous density was edema-like in
76 of our 96 cases. Frequently, areas of edema
density alternated with areas of brain tissue den-
sity (Figs. 6.34, 6.35). Tumors with a density
nearly identical to that of the brain tissue were
observed in nine cases (Fig. 6.36). Small (three
cases) or large (one case) intratumoral calcifica-
tions were rare at the diagnostic stage.
After contrast administration about 40% of
the tumors showed enhancement, which was
usually moderate, limited to a portion of the
tumor. The opaque area generally had an irreg-
ular distribution within the tumor (Fig. 6.37),
sometimes a curvilinear, rim-like appearance, as
in glioblastoma (Figs. 6.37c, d, 6.38a). Tumoral
cysts were observed in seven cases (Fig. 6.39). ,
Because of the severe prognosis and the mo-
dalities of treatment, usually radiotherapy alone
without histologic confirmation, the neurora-
diologist should complement CT examination
with other investigations when the diagnosis re-
mains uncertain (1).
Formerly, the best examination was pneu-
moencephalography, but NMR has now be-
come the investigation of choice, giving as it
does a sagittal view of the entire brain stem and
good delimitation of the tumor (3, 10, 13),
though its value in differential diagnosis with
other brain stem lesions, such as encephalitis
(see Sect. 4.5.3), multiple sclerosis (Sect. 4.5.11),
hematoma (Sect. 5.3.1.2), or hemangioma (Sect.
6.1.5.1) remains to be proven.
Radiotherapy is the principal treatment of
brain stem tumors. Surgery is generally limited
to partial resection of the tumor or to biopsy
(6) (personal series). In the majority of reported
series the survival rate is about 30%-40% (2,6).
The CT appearance of the tumor is rarely of
prognostic value except in tumors with ring-like
or polycyclic contrast enhancement, which in
three of our cases proved to be malignant glio-
mas at biopsy and always had a rapidly unfa-
vorable evolution. In nine other operative cases,
there was no clear correlation between histology
and CT appearance.
278 Intracranial Tumors

In 42 cases the patients were followed up stem has been reported in the literature; oper-
after irradiation until death or for a period of ation in this case revealed a "hemangioma
at least 2 years. In four cases, follow-up CT calcifians" (8).
scans showed a progressive decrease in tumor - In one 3-year-old girl with rapidly progressive
volume (Fig. 6.39), and the patients are doing hemiparesis and cranial nerve involvement,
well 2-4 years after treatment. In 20 cases, the CT showed a dense tumoral nodule in the
tumor remained grossly unchanged or showed pons with a large anterior cyst (Fig. 6.41).
only a moderate decrease in size after radiother- Operation revealed a cystic hemangioma.
apy, with the frequent appearance of small areas
of contrast enhancement. Intratumoral calcifi-
cations appeared in four cases. In 14 cases the References
tumor continued to grow, with extension to the
thalamic region and seeding into the cisterns. 1. Diebler C, Merland 11, Grosvalet A et al. (1980)
In two children follow-up CT scans showed CT-Scan contribution to the diagnosis of intracrani-
al tumors and mass lesions in infancy and child-
respectively: hood. Prog Pediatr Radiol 7: 1-99
Metastatic tumors in the region of the left 2. Greenberger JS, Cassady JR, Levene MB (1977) Ra-
frontal horn and the third ventricle (Fig. 6.42) diation therapy of thalamic, midbrain and brainstem
1 year after treatment. gliomas. Radiology 122:463-468
A tumor in the region of the right ventricular 3. Han JS, Bonstelle CT, Kaufman B et al. (1985)
Magnetic resonance imaging in the evaluation of
trigone, the brain stem showing normal con- the brainstem. Radiology 150:705-712
tours and only a slight and focal increase in 4. Koos WT, Miller MH (1971) Intracranial tumors
density, and signs of mineralizing encephalo- of infants and children. Thieme, Stuttgart
pathy 5 years after treatment. In this case, the 5. Lassman LP, Arjona VE (1967) Pontine gliomas of
long interval after treatment and the location childhood. Lancet 1: 913-915
6. Littman P, Jarrett P, Bilaniuk LT et al. (1980) Pedi-
of the tumor suggest less tumor seeding than atric brain stem gliomas. Cancer 45: 2787-2792
a complication of treatment, i.e. induction as 7. Mawad ME, Silver AJ, Hilal SK et al. (1983) Com-
observed after treatment of leukemia (see puted tomography of the brains tern with intrathecal
Sect. 8.3.1). metrizamide. Am J RoentgenoI140:553-571
In three observations the clinical and neu- 8. Occhiogrosso M, Carella A, D'Aprile P et al. (1983)
Brainstem hemangioma ca1cifians. J Neurosurg
roradiologic presentation of the mass within the 59: 150-152
brain stem was particularly interesting: 9. Panitch HS, Berg BD (1970) Brainstem tumors of
In two 14-year-olds, one boy and one girl, childhood and adolescence. Am J Dis Child
the mass was revealed by subarachnoid hem- 119:465-472
orrhage associated with cranial nerve paresis. 10. Randall CP, Collins AG, Young JR et al. (1983)
Nuclear magnetic resonance imaging of posterior
CT showed a moderately enlarged brain stem fossa tumors. Am J Roentgenol141 :489-495
of edema-like density with appearance of cal- 11. Walker MD (1976) Diagnosis and treatment of
cifications within the brain stem in the years brain tumors. Pediatr Clin North Am 23:131-146
following onset (Fig. 6.44). The patients are 12. Weisberg LA (1979) Computed tomography in the
doing well 2 and 8 years after the acute peri- diagnosis of brainstem gliomas. Comput Tomogr
3:145-153
od; one presents residual facial hemispasm 13. Zimmerman RA, Bilaniuk LT, Packer R et al.
and palatal paresis. Repeat angiographies re- (1985) Resistive NMR of brainstem gliomas. Neu-
mained negative. A similar lesion of the brain roradiology 27: 21-25
Tumors of the Brain Stem
Fig. 6.34a-d. A 3-year-old girl presenting with swallow-
ing difficulties and cerebellar syndrome. CT after con-
trast enhancement: tumor of the brain stem extending
from the medulla oblongata (a), to the pons (b, c) and
the midbrain (d); posterior displacement and compres-
sion of the fourth ventricle with increase of the distance
between its floor and the opacified basilar artery (b).
The density of the tumor is close to that of the brain;
there is no contrast enhancement
279
Fig. 6.35a-d. A 10-year-old girl with a progressive histo-
ry ofVIth, VIIth, and IXth cranial nerve paresis, somno-
lence, and vomiting. CT: large tumor of the brain stem
presenting edematous density without contrast enhance-
ment, slight enlargement of the third and lateral ventri-
cles
280
Fig. 6.36a-d. A 3-year-old girl with a i-month history
of Vth, VIth, and VIIth cranial nerve paresis, pyramidal
and cerebellar syndrome. CT with contrast enhancement
(a, b) shows compression of the fourth ventricle, but
the precise outlines of the tumor remain undetectable.
CT after intrathecal injection of contrast material shows
tumoral infiltration of the medulla oblongata (c) and
the pons (d)
Intracranial Tumors
Fig. 6.37 a-f. A 2-year-old boy with tetraparesis, paresis
of the IVth, VIIth, and Xth cranial nerves, pyramidal
and cerebellar syndrome. CT after injection of contrast
material: essentially edematous brain stem tumor (a) ex-
tending from the medulla oblongata to the midbrain
and presenting a small, dense nodule in the right anterior
part of the pons (b). Four months after onset, after com-
pletion of radiotherapy, CT shows a tumor with a dense
polycyclic rim and a center of CSF density (c, d). CT
8 months after onset demonstrates progressive increase
of tumor size (e, f). The clinical condition of the patient
progressively worsened and he died 9 months after onset
of the clinical symptoms
Tumors of the Brain Stem 281

Fig. 6.38a-d. A 7-year-old boy with IXth and Xth crani-

al nerve paresis, pyramidal and cerebellar syndrome. CT
with contrast enhancement (a, b): tumor of the medulla
oblongata and the pons presenting a dense, oval rim
and a center of edematous density. Nine months after
onset and about 7 months after completion of radiother-
apy, progressive worsening of the clinical symptoms and
signs of increased intracranial pressure. CT with contrast
enhancement (c, d): increase of the size of the tumor
with compression of the fourth ventricle, dilatation of
the third and lateral ventricles. The tumor appearance
has changed, now showing confluent, multiple, small ar-
eas of contrast enhancement with blurred limits. The
patient died 13 months after onset of the clinical symp-
toms

Fig. 6.39a-f. A 4-year-old boy with a 1S-month history

of progressive paresis of the right VIth and VIIth cranial
nerves, pyramidal and cerebellar syndrome. CT with
contrast enhancement: dense tumor spreading from the
right half of the floor of the fourth ventricle to the right
angle cistern (a, b) and presenting a large anterior cyst
(b). Follow-up CT scan 6 months after onset, after crani-
al irradiation: the size of the tumor has clearly dimin-
ished, though the fourth ventricle remains slightly com-
pressed (c, d); no tumoral opacification can be observed.
Fifteen months after onset, the boy is doing perfectly
well and clinical examination shows no abnormalities.
CT after contrast enhancement may be considered nor-
mal (e, f)
282
Fig. 6.40a-f. An 18-month-old boy with 2-week history
of paresis of the left IIIrd and VIIth cranial nerves and
hemiparesis. CT with contrast enhancement (a-c): small,
dense, round tumor located between the pons and the
midbrain and prolonged anteriorly by a mass of edema-
Intracranial Tumors
tous density in the center of the midbrain (b, c). Six
months after completion of radiotherapy the clinical
symptoms progressively worsen. Follow-up CT scan
(d-I) shows marked increase of tumoral size, extending
from the pons to the thalamic region (I)
Fig.6.41a--d. A 4-year-old girl with a 3-week history
of hemiparesis and paresis of the VIth, VIIth, IXth, and
Xth cranial nerves. CT shows a dense tumor with
blurred limits of the pons and of the midbrain (a, b).
Four months after radiotherapy clinical condition of the
patient worsens. Follow-up CT with contrast enhance-
ment (c, d) shows slight increase of the size of the brain
stem tumor and metastases in the third ventricle and
the left frontal horn
Tumors of the Brain Stem
Fig. 6.42a-d. A 3-year-old girl with signs of increased
intracranial pressure, cerebellar syndrome, hemiparesis,
and paresis of the VIIth cranial nerve. CT with contrast
enhancement: dense tumoral nodules located in the pons
with large anterior cyst. Outlet obstruction and dilata-
tion of the fourth ventricle. Operation: cystic heman-
gioma
Fig. 6.44a~. A 16-year-old girl who presented at the
age of 14 years with an acute episode of subarachnoid
hemorrhage with sequelae of facial hemispasm and pala-
283
Fig. 6.43a-d. A 6-year-old girl treated at the age of
18 months for tumor of the brain stem revealed by hemi-
paresis and paresis of the VIth cranial nerve. Follow-up
CT with contrast enhancement: normal contours of the
brain stem (a, b), small dense area in the center of the
midbrain; large irregular mass in the region of the right
ventricular trigone suggesting the diagnosis of malignant
glioma; multiple intracerebral and intracerebellar calcifi-
cations typical of mineralizing encephalopathy
tal paresis. CT with contrast enhancement: small, par-
tially calcified mass compressing the right lateral reces-
sus of the fourth ventricle. Angiography is normal
284
6.1.7 Meningeal Gliomatosis
Diffuse or multi focal glial invasion of the lepto-
meninges is rare. Meningeal seeding is observed
most often (and more and more frequently) in
the follow-up of diagnosed and treated cerebral
gliomas, such as brain stem gliomas (2, 3, 4,
6, 7), midbrain gliomas (1), and cerebellar astro-
cytomas (5). Back pain and signs of medullar
compression may suggest spinal seeding (5), but
meningeal gliomatosis may long remain non-
symtomatic, being detected only by systematic
myelograms or CT scans (4, 6) or at postmortem
(2,4).
Exceptionally, meningeal gliomatosis is ob-
served in patients with no known cerebral or
spinal tumor. This was the case in two personal
patients, a boy of 18 months and a girl of
Fig. 6.45a-g. A 3-year-old girl with signs of increased
intracranial pressure, ataxia, paresis of the VIth cranial
nerve, and meningeal syndrome. CT with contrast en-
hancement: diffuse, dense infiltration of the basal
cisterns and ventricular dilatation (a, b). Myelography
performed after ventricular shunt operation shows dif-
fuse enlargement of the medulla with blockage at D12
(g). Operation reveals meningeal infiltration by glial
Intracranial Tumors
3 years. In both cases, onset was marked by
signs of increased intracranial pressure and pal-
sies of numerous cranial nerves and evolution
was rapidly unfavorable.
CT showed dense infiltration of the basilar
cisterns with dilatation of the third and lateral
ventricles (Fig. 6.45) - as in tuberculous menin-
gitis. Myelography performed in one child
showed diffuse enlargement of the medulla with
blockage at D12 (Fig. 6.45 g). Meningeal seed-
ing in malignant tumors of the central nervous
sytem is most frequent and well documented
in medulloblastoma, ependymoma, neuroblas-
toma, and dysgerminoma (6), where its fre-
quency justifies systematic surveillance. The in-
cidence of meningeal seeding in malignant
glioma remains unknown, but appears to be
higher in young than in adult patients (7).
cells. Follow-up CT-Scan 3 months after the first be-
cause of worsening of the clinical condition with recur-
rent signs of increased intracranial pressure and palsies
of numerous cranial nerves (with contrast enhance-
ment): extension of the cisternal infiltration to the fourth
ventricle (d), and to the sylvian and interhemispheric
fissures (e, 1)
Chordoma
References
1. Erlich SS, Davis RL (1978) Spinal subarachnoid me-
tastasis from primary intracranial glioblastoma mul-
tiforme. Cancer 42: 2854-2856
2. Kepes 11, Striebinger CM, Brickett CF et al. (1976)
Gliomas (astrocytomas) of the brainstem with spinal
intra- and extradural metastases: report of 3 cases.
J Neurol Neurosurg Psychiatry 39:66--76
3. Littman P, Jewett P, Bilaniuk LT et al. (1980) Pediat-
ric brainstem gliomas. Cancer 45: 2787-2792
6.1.8 Chordoma
Chordomas are rare tumors thought to arise
from remnants of the primitive notochord. Half
of them occur in the sacrococcygeal region and
about a third in the region of the clivus (4).
Chordoma is distinctly uncommon in childhood
(4). In three large series totalling 292 cases, only
14 chordomas occurred in children aged less
than 15 years (2, 3, 4), of which 11 were intra-
cranial. During the last 8 years we have ob-
served a chordoma of the clivus in two children
aged 8 and 14 years. One observation has been
reported in a previous paper (1).
Intracranial chordomas are located along
the clivus, and according to whether they are
located in the inferior or superior part of the
clivus, they may lead to clinical symptoms sug-
gesting a tumor of either the posterior fossa or
the sellar region. The most frequent signs of
posterior fossa chordomas are cranial nerve pal-
sies, with swallowing difficulties, nasal speech,
lingual atrophy, oculomotor paresis, ataxia,
nystagmus, occipital headache, and fixed head
position.
Plain skull films and especially tomograms
show destruction of the clivus with generally
poorly defined limits and sometimes condensa-
tion of adjoining parts of the clivus or the first
one or two cervical vertebrae. The tumor may
present large calcifications and bulge into the
cavum (Fig. 6.46 g).
On CT the chordoma has a spontaneous
density slightly higher than that of the cerebral
285
4. Packer RJ, Allen J, Nielsen S et al. (1983) Brainstem
glioma: clinical manifestations of meningeal glioma-
tosis. Ann NeuroI14:177-182
5. Shapiro K, Shulman K (1976) Spinal cord seeding
from cerebellar astrocytomas. Child's Brain
2:177-186
6. Stanley P, Senac MO Jr, Segall HD (1985) Intraspinal
seeding from intracranial tumors in children. Am J
RoentgenoI144:157-161
7. Wai-Kwan AY, Horten BC, Shapiro WR (1980)
Meningeal gliomatosis: a review of 12 cases. Ann
Neurol 8: 605-608
tissue. Contrast enhancement is variable; usual-
ly it is marked (as observed in adult cases), but
it may be absent. The tumor is implanted on
the clivus, displaces the basilar artery and the
brain stem posteriorly, and may lead to com-
pression of the fourth ventricle. It may extend
into the upper cervical canal (Fig. 6.46a, b) and
into the cavum and destroy laterally the point
of the petrous bone.
Preoperative vertebral angiography general-
ly discloses only vascular displacements with
posterior bulging of the basilar artery or vascu-
lar compressions (Fig. 6.46 h-j).
Treatment of chordoma is essentially neu-
rosurgical, with trans buccal tumoral resection.
Radiotherapy seems more efficacious in pediat-
ric than in adult cases (4).
References
1. Diebler C, Merland 11, Grosvalet A et al. (1980) CT-
Scan contribution to the diagnosis of intracranial tu-
mors and mass lesions in infancy and childhood. Prog
Pediatr Radiol 7: 1-99
2. Eriksson B, Gunterberg B, Kindblom LG (1981)
Chordoma. A clinicopathological and prognostic
study of a Swedish national series. Acta Orthop
Scand 52:49-58
3. Higginbotham NL, Philipps RF, Farr HW et al.
(1967) Chordoma. 35 year study at Memorial Hospi-
tal. Cancer 20:1841-1850
4. Wold LE, Laws ER Jr (1983) Cranial chordomas in
children and young adults. J Neurosurg 59: 1043-
1047
286
Fig. 6.46a-j. An 8-year-old girl with a progressive histo-
ry of asthenia, cervical pain, nasal speech, respiratory
and swallowing difficulties, and left-sided hemiparesis.
Examination shows lingual hemiatrophy. Tomogram
(g): destruction of the clivus from the spheno-occipital
synchondrosis to the foramen magnum, large mass bulg-
ing in the cavum, and calcifications situated behind the
clivus. CT with contrast enhancement: tumor with a
Intracranial Tumors
density slightly higher than that of the brain tissue and
large calcifications in its portion situated in the posterior
fossa (c-e), extension to the upper cervical canal and
the cavum (a, b) . The fourth ventricle is slightly com-
pressed (t). Vertebral angiography: compression and ob-
struction of the left vertebral artery (h) and displacement
of the basilar artery (i, j)
----------------------------------~~
Fig. 6.47 a-c. A 17-year-old girl with a 2-year history
of right facial pain and paresthesias, paresis of the right
Vth and VIth cranial nerves. CT with contrast enhance-
ment: enlargement of the right foramen ovale, dense
heterogeneous mass located in the inferior part of the
right temporal fossa. Operation: trigeminal neurinoma.
Neurinoma (Schwannoma)
6.1.9 Neurinoma (Schwannoma)
Intracranial neurinomas represent up to
5 %-8 % of all intracranial tumors in adults (1),
but are exceptional in childhood. They are be-
nign tumors arising from the Schwann sheath
cells and have slow growth.
Neurinomas of the VlIIth Cranial Nerve
Neurinomas of the VIIIth cranial nerve repre-
sent the major part of intracranial neurinomas.
They are rarely bilateral. Their clinical manifes-
tations include progressive, perceptive hearing
loss and, at a late stage in large tumors, signs
of increased intracranial pressure and a cerebel-
lar syndrome.
Skull films and tomograms show enlarge-
ment of the internal acoustic canal (Fig. 6.49 a).
On CT (5) the neurinoma is generally seen as
a small tumor, with a maximal diameter rarely
above 2 cm, extending from the internal acous-
tic canal into the angle cistern. Its density is
close to that of brain tissue before contrast en-
hancement and markedly increased after. The
limits of the tumor are well defined (Fig. 6.49).
Neurinomas of the Vth Cranial Nerve
Trigeminal neurinomas are rare, constituting
only 2.9% of intracranial neurinomas. In our
series we have observed three adolescents with
trigeminal neurinoma. Common clinical mani-
festations (2, 4) include facial pain and paresthe-
sias. Fifth cranial nerve symptoms are incon-
stant and atypical. The interval from onset of
Fig. 6.47 a--c
287
first clinical signs to diagnosis was about 2 years
in our experience. In one personal case the pa-
tient presented with paresis of the IIIrd cranial
nerve.
Skull films and tomograms may show en-
largement of Meckel's cavity with deformation
and erosion of the tip of the petrous bone and
the lateral wall of the sphenoid bone
(Fig. 6.48e). Enlargement of the foramen ovale
is inconstant.
On CT the trigeminal neurinoma may be lo-
cated in the posterior fossa, when arising from
the trigeminal root, or may bridge the posterior
and middle cerebral fossa, but most frequently
it is located wholy in the middle cerebral fossa
between the cavernous sinus and the temporal
lobe (3) (Figs. 6.47, 6.48). It generally shows
clear contrast enhancement and well-defined
limits.
References
1. Bradac GB, Boll U, Fahlbusch R et al. (1984) Neu-
rinomas. In: Kazner E, Wende S, Grumme TH et al.
(eds) Computed tomography in intracranial tumors.
Springer Berlin, Heidelberg New York, pp 255-259
2. Goldberg R, Byrd S, Winter J et al. (1980) Varied
appearance of trigeminal neuroma on CT. Am J
Roentgenol 134: 57-60
3. Kapila A, Chakeres DW, Blanco E (1984) The
Meckel cave: Computed tomographic study. Radiol-
ogy 152:425--433
4. Levinthal R, Bentson JR (1976) Detection of small
trigeminal neurinomas. J Neurosurg 45: 568-575
5. Naidich TP, Lin JP, Leeds NE et al. (1977) Com-
puted tomography in the diagnosis of extra-axial pos-
terior fossa masses. Radiology 123: 639-648
288 Intracranial Tumors

Fig. 6.49a-d. A 16-year-old boy with neurofibromatosis,

progressive hearing loss, partial motor seizure. CT with
contrast enhancement: enlargement of the internal audi-
tory canals (a), bilateral neurinomas of the VIIIth crani-
al nerves (b, c), left-sided frontal meningioma implanted
on the falx and the frontal vault (d)

Fig. 6.48a--e. A 17-year-old boy with progressive paresis

of the IIIrd and VIth cranial nerves and left facial pares-
thesias. Tomogram (e): erosion and deformation of the
lesser sphenoidal wing, the lateral wall of the sphenoid,
and the adjacent part of the floor of the temporal fossa
(e). CT after contrast enhancement (a-d): small, oval,
well-delimited tumor with dense periphery and center
of edematous density in the region of the left lateral
sinus. Operation: trigeminal neurinoma
Tumors of the Pineal Region
6.2 Tumors of the Region
of the Third Ventricle and
the Region of the Sella Turcica
6.2.1 Tumors of the Pineal Region
Comprehension of the tumors of the pineal re-
gion has been difficult for two reasons: (a) the
traditional surgical abstention, leading to the
treatment of tumors of unknown histology, and
(b) the highly confusing nomenclature, includ-
mg numerous synonyms.
In fact, because of the high mortality, and
since 75% of the tumors of the pineal region
are malignant (3, 12) and not amenable to total
excision, traditionally most authors have advo-
cated surgical conservatism (8). Ventricular
shunt operation followed by irradiation was
considered the treatment of choice. Progress in
anesthetic and neurosurgical techniques have
now reduced mortality to a minimal level (8,
12), and thus precise preoperative distinction
between malignant tumors that may require ra-
diotherapy and benign tumors that may benefit
from surgery unaccompanied by other measures
has become indispensable.
In fact, the nomenclature of the histologic
classification of pineal tumors has been settled
and universally agreed only in recent years (15).
Three groups are distinguished:
- Germ cell tumors, including germinoma, be-
nign and malignant teratoma, chorioepithe-
lioma, and embryonal carcinoma
- Pineal parenchymal tumors, including pineal-
ocytoma and pinealoblastoma
- Glial tumors, including astrocytoma, spon-
gioblastoma, ependymoma, etc.
Tumors of the pineal region account for
3%-8% of pediatric intracranial tumors (1).
The relative frequency of the different tumor
types in pediatric patients is difficult to estab-
lish. Germinomas are the most common, ac-
counting for about half the pineal tumors, fol-
lowed by pinealocytomasjblastomas and terato-
mas; glial tumors of this location are relatively
rare (8, 13, 17).
289
6.2.1.1 Germ Cell Tumors
Germinoma
The germinoma (synonyms: dysgerminoma,
atypical teratoma) is thought to derive from pri-
mordial germ cells. Like most pineal tumors it
shows a clear predilection for males. Associa-
tion with Klinefelter's syndrome has been re-
ported in the literature (2). Germinoma may be
observed in infancy, but the peak of highest inci-
dence is situated around the age of 10 years (8)
(personal series).
Tumoral extension and seeding along the
third ventricle explains the frequent complexity
of the clinical signs in germinomas. The interval
between the first clinical signs and diagnosis
varied from several days to 2 years in 15 per-
sonal cases. Signs of increased intracranial pres-
sure occurred in eight cases. Visual disturbances
may consist of partial or complete Parinaud's
syndrome. Polyuria-polydipsia is a relatively
frequent finding (8, 16) and existed in 10 of our
15 cases. It is often associated with a deficit in
growth hormone (16). Isosexual precocious pu-
berty occurred in two cases in our series. Signs
of compression of the Vth and VIIIth cranial
nerves existed in a metastatic germinoma of the
angle cistern. Cytological studies of the CSF
may help to confirm the diagnosis; they were
positive in five cases in our series. A number
of cases of germinoma may be associated with
secretion of j3-HCG, but there is never any se-
cretion of a-fetoprotein.
In our 15 patients with germinoma the tu-
mor was located in the pineal region in 12 cases
and associated with an ectopic tumor, generally
in the anterior third ventricle, in nine cases. In
three cases there existed an isolated mass of the
sella turcica and the anterior third ventricle.
This explains why, in our series, plain skull films
show signs of increased intracranial pressure
with splitting of the sutures and convolutional
markings with the same frequency as signs of
an intrasellar mass with generally moderate en-
largement of the sella turcica and focal erosion
of its walls. An abnormally large pineal calcifi-
cation (10) was found in only three cases.
On CT pineal and ectopic germinoma most
frequently presented as a mass slightly denser
290
than the surrounding brain. Small spotty calcifi-
cations occurred in pineal tumors but never in
ectopic tumors, as has been reported in the liter-
ature (11). After injection of contrast material,
the tumor showed clear, homogeneous opacifi-
cation in most cases (Figs. 6.51-6.53). Small tu-
moral cysts were observed in two cases
(Fig. 6.53). The tumoral limits were well defined
in 13 cases, but in two cases the tumor presented
an edematous density before and after contrast
enhancement and had ill-defined limits.
Diagnosis was based on transsphenoidal
biopsy in nine cases, on CSF studies in five
cases, and on stereotaxic biopsy of the pineal
tumor in two cases.
Treatment consisted of radiotherapy, ac-
companied by ventricular shunt operation if
necessary. Rapid disappearance of the tumor
after radiotherapy may constitute supplementa-
ry diagnostic information (8).
Follow-up CT scans revealed tumor recur-
rences in three cases 2-4 years after treatment.
In one of these cases, a 12-year-old boy had
received irradiation only in two small fields on
the pineal and sellar region. He presented
2 years after treatment with behavioral distur-
bances and back pain, and CT (Fig. 6.52) and
myelography demonstrated periventricular and
spinal metastases. This observation underlines
the value of correct irradiation of the whole cen-
tral nervous system in germinomas (1). Six chil-
dren showed CT signs of mineralizing encepha-
lopathy in the region of the basal ganglia and
the temporal lobes in the years following treat-
ment. Two boys died 2 years after treatment
from radiation-induced diffuse ischemic lesions.
Hematogenous metastases are exceptional (7).
Benign Teratoma
Benign teratomas are rare tumors of the pineal
region (8, 9, 17), containing various tissues. The
symptomatology is that of a pineal mass: signs
of increased intracranial pressure and partial or
complete Parinaud's syndrome.
In three personal cases - a girl of 6 months
and two boys aged 12 and 14 years - plain skull
films showed macrocrania and intracranial cal-
cifications in the infant and signs of increased
intracranial pressure in the other cases.
Intracranial Tumors
On CT the teratomas presented as large het-
erogeneous tumors with numerous small calcifi-
cations and alternating areas of adipose density
and brain density, the latter showing a clear in-
crease in density after contrast enhancement
(Figs. 6.57,6.58). In the case of the 6-month-old
girl the tumor had invaded the dilated lateral
ventricles (Fig. 6.58). Angiography was per-
formed in two cases and demonstrated a hyper-
vascular tumor in one.
In two cases neurosurgical excision was
complete and confirmed the diagnosis.
Malignant Teratoma
Malignant teratomas of the pineal region are
more frequent than benign teratomas. Their
presenting clinical symptoms are signs of in-
creased intracranial pressure, frequently preco-
cious puberty, and, more rarely, diabetes insipi-
dus (8). Tumor markers such as p-HCG and
oc-fetoprotein may be positive. Cytologic studies
of the CSF rarely reveal tumor cells.
On CT malignant teratoma appears as a het-
erogeneous mass with edematous, dense, calci-
fied and even fatty areas. Contrast enhancement
is irregular. There are no decisive CT distinc-
tions between benign and malignant teratoma.
In a personal observation concerning a
10-year-old girl with a 1-month history of po-
lyuria-polydipsia and headache, a first CT scan
revealed a heterogeneous tumor in the region
of the IIIrd ventricle (Fig. 6.55 a, b). A week
later the girl suddenly became profoundly co-
matose. A second CT scan revealed a large in-
tratumoral hematoma with edematous appear-
ance of the peri tumoral brain tissue (Fig. 6.55c,
d). The patient died several hours later. The
histologic appearance of tumor fragments was
compatible with malignant teratoma.
Apoplexia of pineal tumors by spontaneous
hemorrhage has been reported (4, 5).
6.2.1.2 Pineal Parenchymal Tumors
Pineal parenchymal tumors include pinealocy-
toma and the more malignant pinealoblastoma
and represent about 20% of the pineal tumors
at all ages. Like germinomas they have a ten-
dency for metastases along the CSF pathways,
Tumors of the Pineal Region
but there is no clear sex predilection. Incidence
is highest between 10 and 15 years of age.
The clinical symptoms generally comprise
signs of increased intracranial pressure and Par-
inaud's syndrome. Endocrine disturbances are
rare. Cytological examination of CSF may re-
veal tumoral cells. Markers such as a-fetopro-
tein or p-HCG are not observed in pineal paren-
chymal tumors.
On plain skull films a large pineal calcifica-
tion was found in only two of seven personal
cases of pinealoblastoma.
On CT (8, 9, 17) pinealoblastoma generally
presents as a well-delimited mass with a sponta-
neous density slightly higher than that of the
brain tissue. The increase in density is homoge-
neous and marked in most cases (Fig. 6.50). In
two cases the tumor showed no contrast en-
hancement and its limits remained unprecise
(Fig. 6.54).
Metastases along the ventricular walls were
observed in two cases. As in germinoma, radio-
therapy may induce rapid reduction of tumor
size (Fig. 6.50). Follow-up CT scans detected
metastases in two cases 1 and 2 years after treat-
ment.
6.2.1.3 Glial Tumors of the Pineal
and Aqueductal Region
Glial tumors of the pineal and aqueductal re-
gion frequently present with a remarkably long
history (6). In six of eight personal cases it ex-
ceeded 2 years. Often the patients are treated
for apparent idiopathic aqueductal stenosis, and
focal neurologic signs as Parinaud's syndrome,
ophthalmoplegia and deafness (one personal
case) appear in the years after shunt operation.
Follow-up CT scans may reveal the tumor,
which is usually small and of the same density
as the brain tissue, (Fig. 6.56), showing contrast
enhancement in about half the cases. Absence
of CT evidence of tumor does not rule out the
possibility of a small "pencil" glioma of the
aqueduct.
In four of our eight cases diagnosis was
based on histology, and in the other four a glial
tumor was probable because of the long dura-
tion of the clinical signs (exceeding 4 years).
291
In six observations in our series the precise
nature of a pineal tumor was not established
histologically, though clinical and neuroradio-
logic presentation and sensitivity to radiothera-
py strongly suggested the diagnosis of germin-
oma.
Differential diagnosis of pineal tumors may
sometimes be relatively easy. A heterogeneous
tumor with calcifications and areas of fatty and
of parenchymal density is very probably a tera-
toma; however, distinction between benign and
malignant teratomas is impossible.
Pineal parenchymal tumors, germinomas,
and even some teratomas (pineal rhabdomyo-
sarcoma) (14) may have a very similar appear-
ance on CT and on angiography. Sometimes
distinction between these tumors is possible on
clinical grounds (presence or absence of endo-
crine signs), by means of markers such as a-
fetoprotein and p-HCG, or by cytologic exami-
nation of the CSF. Frequently, however, precise
diagnosis of the nature of the tumor may be
possible only at operation.
References
1. Abay EO, Laus ER, Grado GL et al. (1981) Pineal
tumors in children and adolescents. J Neurosurg
55:889-895
2. Ahagon A, Yoshida Y, Kusuno K et al. (1983) Su-
prasellar germinoma in association with Kline-
felter's syndrome. J Neurosurg 58: 136-138
3. DeGirolami U, Schmidek H (1973) Clinicopatholog-
ical study of 53 tumors of the pineal region. J Neu-
rosurg 39: 455--462
4. Ghoshhajra K, Baghai-Naiini P, Hahn HS et al.
(1979) Spontaneous rupture of a pineal teratoma.
Neuroradiology 17:215-217
5. Higoshi K, Katayama S, Orita T (1979) Pineal apo-
plexy. J Neurol Neurosurg Psychiatry 42: 1050-1053
6. Ho KL (1982) Tumors of the cerebral aqueduct.
Cancer 49: 154-162
7. Howman-Giles R, Besser M, Johnston IH et al.
(1984) Disseminated hematogenous metastases from
a pineal germinoma in an infant. J Neurosurg
60:835-837
8. Jooma R, Kendall BE (1983) Diagnosis and man-
agement of pineal tumors. J Neurosurg 58: 654-665
9. Kleefeld J, Solis OJ, Davis KR et al. (1977) Com-
puted tomography of tumors of the pineal region.
Comput Tomogr 1 :257-265
10. Lin SR, Crane MD, Lin ZS et al. (1978) Characteris-
tics of calcifications in tumors of the pineal gland.
Radiology 126:721-726
292
11. Naidich TP, Pinto RS, Kushner MU et al. (1976)
Evaluation of sellar and parasellar masses by com-
puted tomography. Radiology 120:91-99
12. Obrador S, Soto M, Guttierrez-Diaz JA (1976) Sur-
gical management of tumors of the pineal region.
Acta Neurochir 34:159-171
13. Packer RJ, Sutton LN, Rosenstock JG et al. (1984)
Pineal region tumors of childhood. Pediatrics
74:97-102
14. Preissig SH, Smith MT, Huntington HW (1979)
Rhabdomyosarcoma arising in a pineal sarcoma.
Cancer 44:281-284
Fig.6.50a-i:. A 3-year-old girl with signs of increased
intracranial pressure, ataxia, and palsy of the left yIth
and yIIth cranial nerves. CT before (a) and after (b)
contrast enhancement: large tumor of the pineal region
presenting a spontaneous density slightly higher than
that of the surrounding brain and a marked, homoge-
neous increase in density after injection of contrast mate-
rial. The limits of the mass are apparently well defined.
The mass compresses the posterior part of the third ven-
Fig.6.5la-i:. A 12-year-old boy who presented preco-
cious puberty at the age of 9 years and signs of increased
intracranial pressure at the age of 11 years. Treatment
by ventricular shunt operation. Currently he is being
Intracranial Tumors
15. Russell DS, Rubinstein LJ (1977) Pathology of tu-
mours of the nervous system, 4th edn. Williams and
Wilkins, Baltimore
16. Sklar CA, Grumbach MM, Kaplan SL et al. (1981)
Hormonal and metabolic abnormalities associated
with central nervous system germinoma in children
and adolescents and the effect of therapy: report
of 10 cases. J Clin Endocrinol Metab 52:9-15
17. Zimmerman RA, Bilaniuk LT, Wood JH et al.
(1980) Computed tomography of pineal, parapineal,
and histologically related tumors. Radiology
137: 669-677
tricle, causing marked dilatation of the lateral ventricles.
Treatment consisted of shunt operation and radiothera-
py. CSF studies demonstrated tumor cells compatible
with the diagnosis of pinealoblastoma. CT immediately
after completion of radiotherapy (with contrast enhance-
ment): marked decrease of the tumoral volume and of
ventricular dilatation (c). Nine months after radiothera-
py the girl presented with a large recurrent tumor and
died shortly afterwards
treated for Parinaud's syndrome. CT with contrast en-
hancement: large, dense homogeneous tumor of the pi-
neal region (b, c) with metastases in the third ventricle
(a) and along the walls of the lateral ventricles (b, c)
Tumors of the Pineal Region 293

<l Fig. 6.52a-g. A 12-year-old boy with a 2-year history

of diabetes insipidus, deficit in growth hormone. CT
with contrast enhancement: small tumor in the sellar
and suprasellar region (a, b), large tumor in the pineal
region (c, d). The pineal tumor shows marked and homo-
geneous contrast enhancement and two calcifications lo-
cated in its inferior part. Cytologic examination of CSF
studies revealed tumor cells compatible with germinoma.
The patient received radiotherapy in two isolated fields
on the sellar and pineal region, but no irradiation of
the entire cranium and of the spinal canal. 1 year later
he complains of back pain and shows behavioral distur-
bances. CT reveals large metastases around the frontal
horns and disappearance of the pineal tumor (e, f). Mye-
lography (g): metastasis in the lumbar canal with block-
age

Fig. 6.53a-d. A 9-year-old boy with diabetes insipidus,

deficit in growth hormone, Parinaud's syndrome. CT
with contrast enhancement: slight erosion of the right
anterior wall of the sella turcica, small dense tumor of
the infundibulum (b) presenting a large cyst extending
under the right anterior cerebral artery into the right
subfrontal region (a, b), small dense tumor of the pineal
region presenting a large calcification (c, d)
294
Fig. 6.54a--c. A 2-year-old boy with signs of increased
intracranial pressure, tremor, and ataxia. CT with con-
trast enhancement: ill-defined tumor with a density
grossly identical to that of the brain tissue, compressing
the posterior third ventricle (b, c) and leading to marked
hydrocephalus. Stereotaxic biopsy: pinealo blastoma
Fig. 6.55a-d. A 10-year-old girl with headache, diabetes
insipidus. CT before (a) and after (b) contrast enhance-
ment: large tumor of the third ventricle presenting a
small calcification before injection of contrast material
and marked, heterogeneous opacification after. About
10 days later the patient suddenly became comatose and
died after several hours. CT without contrast enhance-
ment: large intratumoral hemorrhage and an edematous
appearance of the surrounding brain (c, d). The appear-
ance of tumoral fragments was compatible with malig-
nant teratoma
Intracranial Tumors
Fig. 6.56a-d. A 10-year-old girl with frequent cervical
pain, homonymous lateral hemianopsia, ataxia for
2 years, signs of increased intracranial pressure. CT with
contrast enhancement (a, b): small mass of the pineal
region (b) presenting the same density as the brain tissue
and leading to characteristic deformation of the posteri-
or third ventricle and obstruction of the aqueduct.
Marked dilatation of the lateral ventricles with edema-
tous appearance of the brain in the frontal and occipital
regions. Treatment: ventriculocisternostomy. Follow-up
CT 6 months later (c, d): regression of ventricular dilata-
tion with visibility of the cortical sulci, unchanged ap-
pearance of the pineal tumor. The most probable diag-
nosis is astrocytoma of the pineal region
Gliomas of the Region of the Third Ventricle
Fig. 6.57 a-d. A 13-year-old boy with diplopia, signs of
increased intracranial pressure, pyramidal syndrome, pa-
pilledema. CT with contrast enhancement: extremely
heterogeneous tumor of thc pineal region with areas of
edematous and adipose density, large calcifications,
marked contrast enhancement at periphery. Operation:
benign teratoma
6.2.2 Gliomas of the Region of the Third
Ventricle
Gliomas of the region of the third ventricle may
be located in the anterior visual pathways, the
hypothalamic region, or the posterior or superi-
or walls of the third ventricle. Distinction be-
tween these three groups is possible in small
tumors, but is generally highly arbitrary in large
tumors (4). Children with gliomas of the anteri-
or visual pathways have essentially visual distur-
bances (personal series: 46 cases), whereas those
with gliomas of the hypothalamic region present
predominantly endocrine troubles (personal ser-
295
Fig. 6.58a-d. A 6-month-old girl with rapidly evolutive
macrocrania, sunset sign. CT before (a-c) and after (d)
contrast enhancement: extremely heterogeneous tumor
presenting ill-defined limits, multiple calcifications, small
areas of adipose density and large areas of parenchymal
density with intense opacification after contrast en-
hancement. The tumor extends from the pineal region
(a) into the dilated lateral ventricles. Operation was re-
fused. The most probable diagnosis is benign or malig-
nant teratoma
ies: 11 cases). Gliomas of the posterior or supe-
rior third ventricle tend to be manifested by al-
most isolated signs of increased intracranial
pressure (personal series: 17 cases).
6.2.2.1 Tumors of the Anterior Visual
Pathways
Tumors of the anterior visual pathways usually
correspond to polar spongioblastomas (10, 21)
and this was also the case in 12 patients in our
series with biopsy. The incidence of neurofibro-
matosis varies widely - from 12% to 40% -
in series reported in the literature (5, 7, 9, 12,
15, 20, 21); it was 50% in our series. The age
296
at diagnosis varied in our series from the neona-
tal period to 15 years, with a mean of 5 years
10 months. The mean age was the same in the
groups with and without neurofibromatosis.
There was a slight female predominance: 26 of
46 cases.
The main symptoms included progressive vi-
sual loss (36 cases, with sudden blindness and
mydriasis in three cases), nystagmus (11 cases),
strabismus (four cases), and uni- or bilateral ex-
ophthalmos (six cases). Signs of increased intra-
cranial pressure were present in 20 cases. Endo-
crine disturbances were various, including pre-
cocious puberty (five cases), diabetes insipidus
(three cases), obesity (three cases), and genital
underdevelopment (one case). Only one patient
had a single motor seizure. Ophthalmoscopic
examination revealed optic atrophy in 24 cases
and papilledema in nine cases.
Plain skull films showed uni- or bilateral en-
largment of the optic canals in 29 cases and ap-
parent enlargement of the sella turcica with flat-
tening of the tuberculum sellae and erosion of
the anterior sellar walls in 30 cases. Split sutures
and/or convolutional markings existed in
18 cases. Sphenoidal dysplasia was noted in four
patients with neurofibromatosis.
CT has emerged as an examination of pri-
mary importance in the diagnosis of tumors of
the anterior optic pathways (4, 8, 13, 17). Even
small tumors of the optic chiasm and optic
nerves can be detected, since the CSF of the
suprasellar cisterns and the intraorbital adipose
tissue act as natural contrast media. Intrathecal
injection of contrast material may improve the
contrast in the suprasellar cisterns and better
outline the contours of small lesions of the optic
chiasm.
CT was performed at the diagnostic stage
in 29 patients of this series, before and after
treatment in 19 patients, and as follow-up exam-
ination after treatment in 17 patients.
Glioma of the optic nerves was observed in
31 cases. It was unilateral in 19 cases, bilateral
in 12 cases. In only three cases it was unilateral
without intracranial extension (Fig. 6.59), con-
trasting with published series showing isolated
optic nerve involvement in 20%-40% of cases
(12, 15, 20). Optic nerve glioma appeared as
Intracranial Tumors
an enlargement of the orbital and/or intracrani-
al portions of the optic nerve. The enlargement
is generally irregular, and the normally linear
course of the orbital portion may become sinu-
ous (Figs. 6.60, 6.66a). In three cases the optic
nerve glioma nearly completely filled the orbit.
The diameter of the glioma of the chiasm
was under 2 cm in 13 of the 29 patients seen
at the diagnostic stage, over 2 cm in the remain-
ing 16. In six cases the tumor was so large that
it induced signs of increased intracranial pres-
sure without tell-tale ventricular dilatation
(Fig. 6.65) (Fig. 27 in ref. 6). The spontaneous
density of the tumor was either close to that
of the cerebral tissue or of the edematous type.
A definite increase in density after contrast en-
hancement, usually homogeneous, occurred in
32 of the 46 cases. Tumoral cysts were noted
in nine cases (Fig. 6.62), calcifications in ,seven
cases (Fig. 6.61). The tumor limits were mostly
well defined. In large tumors there were exten-
sions into the frontal (Fig. 6.65), temporal
(Figs. 6.63, 6.64), or basal ganglia regions, with
no clear predilection. In 14 cases the lateral ven-
tricles were dilated, most often by tumoral ob-
struction of the third ventricle (Fig. 6.64), but
in two patients with neurofibromatosis by aque-
ductal stenosis. One patient had an infarct of
the middle cerebral artery prior to treatment
and another had multiple tumor locations. Cys-
tic enlargement of the interfrontal, interhem-
ispheric, and sylvian fissures was frequently ob-
served in infants with large gliomas of the
chiasm (Figs. 6.66, 6.69).
In 17 children with CT before and after ra-
diotherapy, the tumor size remained grossly un-
changed in seven and clearly diminished in the
other ten (Fig. 6.67). In two children the tumor
disappeared completely. Reduction of tumor
size was transient in two young children with
large tumors, recurrence of tumor growth oc-
curring within 2 years after treatment. Four pa-
tients with large tumors showed infarcts in the
territories of the anterior and middle cerebral
arteries imputable to irradiation (Fig. 6.67).
Mineralizing encephalopathy was observed in
12 patients. Similar regression of tumor size has
been reported in other series (14, 21), underlin-
ing the importance of radiotherapy. Surgical
Gliomas of the Region of the Third Ventricle
treatment may cure gliomas of the optic nerve,
but only exceptionally is complete excision of
gliomas of the chiasm possible (20). Shunt oper-
ation is indicated in gliomas with obstructive
hydrocephalus.
6.2.2.2 Hypothalamic Tumors
We discuss hypothalamic tumors of early in-
fancy separately because of the precocious onset
of the clinical manifestations, suggesting a con-
genital tumor (18), and the complexity of these
manifestations: marked emaciation without
gastrointestinal disorders, a hyperkinetic state
with euphoria, and multidirectional nystagmus.
Cachexia and lipoatrophy contrast with normal
muscle bulge, normal stature, and normal os-
seous age. This association is known as Russell's
diencephalic syndrome (16). It has been re-
ported in about 100 children, 90% of whom had
the first disturbances before the end of the first
year of life (2, 3). The histology of the tumor
is known in 60 cases and in most cases corre-
sponds to glioma, only rarely to other tumors
such as ependymoma, glioblastoma, or germin-
oma (2, 3). An association with neurofibroma-
tosis was noted in ten cases (1).
Most often the tumor is large, but in a series
of ten cases of large hypothalamic gliomas (4)
the diencephalic syndrome was encountered in
only three patients. In our series the dience-
phalic syndrome was observed in half the pa-
tients with large tumors of the chiasm in the
first year of life.
The diencephalic syndrome is not specific to
third ventricle tumors and may be observed in
tumors of other locations, such as craniophar-
yngioma (11), brain stem glioma (19) and cere-
bellar tumors (see Sect. 6.1.5.3).
CSF protein is frequently elevated and cyto-
logy may disclose tumor cells (3). With advanc-
ing disease, signs of increased intracranial pres-
sure may appear.
Plain skull films may show enlargement of
the optic canals and of the sella turcica.
CT revealed a tumor with a diameter above
2 cm in 10 of 11 personal cases. The spontane-
ous density of the tumor was identical to that
of the brain tissue in half the cases, of edema-
297
tous type in the other half. Contrast enhance-
ment led to a significant increase in density in
all cases. Extension to optic nerves was absent
in all cases. There were no clear criteria for dis-
tinguishing between gliomas with diencephalic
syndrome and other gliomas of the optic path-
ways (Fig. 6.68) in infants (4).
These large gliomas in infants were more ag-
gressive than in older children, as noted in an-
other series (4); they were less responsive to ra-
diotherapy, showed a tendency to meningeal
seeding, and led to death more frequently and
more swiftly.
6.2.2.3 Tumors of the Posterior and Superior
Third Ventricle
The tumors located in the posterior and superi-
or part of the third ventricle were generally re-
vealed by signs of increased intracranial pre's-
sure (15 of 17 personal cases) which frequently
remained isolated (ten cases). Associated clinical
signs consisted of diabetes insipidus (five cases),
somnolence (four cases), obesity (three cases),
and homonymous lateral hemianopsia.
Direct surgery was attempted in eight cases
and revealed six spongioblastomas, one gra-
de III astrocytoma, and one papilloma of the
roof of the third ventricle.
References
1. Adornado B, Berg B (1977) Diencephalic syndrome
and von Recklinghauscn's diseasc. Ann Neurol
2:159-160
2. Antonini M (1983) Cachexie diencephalique, 11 pro-
pos de 11 cas suivis 11 J.G.R. de 196011 1981. These,
Paris. Universite Cochin-Port-Royal
3. Burr 1M, Slonis AE, Danish RK et al. (1976) Dien-
cephalic syndrome revisited. J Pediatr 88 :439-443
4. Davis PC, Hoffman JC Jr, Weidenheim KM (1983)
Large hypothalamic and optic gliomas in infants:
difficulties in distinction. Am J Neuroradiol
5:579-585
5. DeSousa AL, Kalsbeck JE, Mealey J Jr et al. (1979)
Optic chiasmatic glioma in children. Am J Ophthal-
mol 87:376-381
6. Diebler C, Merland 11, Grosvalct A et al. (1980)
CT -Scan contribution to the diagnosis of intracrani-
al tumors and mass lesions in infancy and child-
hood. Prog Pediatr Radiol 7: 1-99
7. Harwood-Nash DC, Fitz CR (1976) Neuroradio-
logy in infants and children, vol II. Mosby, St Louis
298
8. Hatam A, Bergstrom M, Greitz T (1979) Diagnosis
of sellar and parasellar lesions by computed tomog-
raphy. Neuroradiology 18: 249-258
9. Hoyt WF, Baghdassarian SA (1969) Optic glioma
of childhood. Natural history and rationale for con-
servative treatment. Br J Ophthalmol 53: 793-798
10. Koos WT, Miller MH (1971) Intracranial tumors
in infants and children. Thieme, Stuttgart
11. Launay C, Ribadeau-Dumas C, Maillard J et al.
(1946) La forme cachectisante du craniopharyn-
giome. Arch Fr Pediatr 3:581-584
12. Miller NR, Iliff WJ, Green WR (1974) Evaluation
and management of gliomas of the antcrior visual
pathways. Brain 97:743-754
13. Naidich TP, Pinto RS, Kushner M et al. (1976)
Evaluation of sellar and parasellar masses by com-
puted tomography. Radiology 120:91-99
14. Montgomery AB, Griffin T, Parker RG et al. (1977)
Optic nerve glioma: the role of radiation therapy.
Cancer 40: 2079-2080
Fig. 6.60 a, b. A 6-year-old girl with neurofibromatosis,
dorsal kyphoscoliosis, macrocrania, bilateral exophthal-
mos, decrease of visual acuity, optic atrophy. CT with
contrast enhancement: bilateral tumoral infiltration of
the optic nerves which are enlarged, have irregular con-
tours, and present a sinuous course (a); dense, homoge-
neous glioma of the optic chiasm (b)
Intracranial Tumors
15. Oxenhandler DC, Sayers MP (1978) The dilemma
of childhood optic gliomas. J N eurosurg 48 : 34-41
16. Russell DS, Rubinstein LJ (1977) Pathology of tu-
mours of the nervous system, 4th edn. Williams and
Wilkins, Baltimore
17. Savoiardo M, Harwood-Nash DC, Tadmor R et al.
(1981) Gliomas of the intracranial anterior optic
pathways in children. Radiology 138: 601-610
18. Smith KR, Weinbrug WA, McAlister WH (1965)
Failure to thrive; the diencephalic syndrome of in-
fancy and childhood. J Neurosurg 23: 348-352
19. Solomon GG, Franck DJ, Gold A (1969) Failure
to thrive of cerebral etiology. N Engl J Med
280:769-770
20. Tenny RT, Laws ER Jr, Younge BR et al. (1982)
The neurosurgical management of optic glioma. J
Neurosurg 57: 452-458
21. Visot A, Rougerie J, Derome PJ et al. (1980) Optic
chiasma gliomas. Neurochirurgie 26: 181-192
Fig. 6.59a-<:. A 14-year-old
girl with slight left exoph-
thalmos, decrease of visual
acuity of the left eye. CT:
enlargement of the left optic
nerve, normal optic chiasm
Fig. 6.61 a, b. A 5-year-old boy with headache, diminu-
tion of visual acuity. Fundoscopic examination: bilateral
optic atrophy. CT with contrast enhancement: optic
chiasm glioma of the same density as the brain tissue,
clearly delimited by the CSF density of the suprasellar
cisterns; tumoral extension to the region of the right
basal ganglia with small calcifications (b)
Gliomas of the Region of the Third Ventricle
Fig. 6.62 a--c. An ll-year-old girl with marked decrease
of visual acuity, right homonymous lateral hemianopsia,
episodes of partial motor seizures. CT with contrast en-
Fig.6.63a-d. A 7-year-old boy with somnolence, loss
of weight, nystagmus, decrease of visual acuity, palsy
of the left VIIth cranial nerve. Fundoscopic examina-
tion: optic atrophy. CT with contrast enhancement: en-
largement of sella turcica with large supra- and retrosel-
lar tumor of heterogeneous appearance extending into
the posterior fossa and into the region of the right basal
ganglia and temporal lobe; enlargement of the lateral
ventricles
299
hancement: large dense tumor of the optic chiasm with
essentially cystic extension into the region of the left
basal ganglia and temporal lobe
Fig. 6.64a-d. A 3-year-old boy presenting macrocrania,
hemiparesis, blindness, and signs of increased intracrani-
al pressure 2 years after radiotherapy of large glioma
of the optic chiasm. CT after contrast enhancement:
normal optic nerves (a); typical deformation of the ante-
rior walls of the sella turcica (b); large, dense, grossly
homogeneous chiasmatic glioma extending in the region
of the right basal ganglia and obstructing the third ven-
tricle (c, d)
300 Intracranial Tumors

~ig. 6.66a-d. A 4-month-old boy with macrocrania,

nght exophthalmos. CT with contrast enhancement: tu-
moral infiltration of the right optic nerve (a); large,
Fig. 6.65a-d. A 5-year-old girl with marked diminution
of visual acuity, hemiparesis, signs of increased intracra- dense glioma of the optic chiasm extending symmetri-
nial pressure. Skull films: enlargement of sella turcica, cally into the basal ganglion region (c), apparently cir-
split sutures, convolutional markings. CT with contrast cumscribing the tuber cinereum region; enlargement of
the basal cisterns and of the peripheral arachnoid spaces
enhancement: very large, dense chiasmatic glioma ex-
tending into the frontal regions; no marked ventricular
enlargement. Follow-up CT 9 months after radiotherapy
showed no notable change in tumor size
Gliomas of the Region of the Third Ventricle 301

l::,.
Fig. 6.67 a-f. A 6-month-old boy with diencephalic ca-
chexia and rotatory nystagmus. CT with contrast en-
hancement: very large, grossly homogeneous glioma of
the chiasm (a, b) without ventricular dilatation (c). One
year after radiotherapy the boy presents with repeated,
partially regressive episodes of bilatcral hemiparesis as-
sociated with alteration of consciousness and seizures.
CT with contrast enhancement (d-f): clear decrease of
tumor size (d), presence of mUltiple ischemic lesions of
various age in the frontal lobes and the left parietal re-
gion (e, f)

Fig. 6.68a-d. A 9-month-old boy with diencephalic ema- c>

ciation syndrome and nystagmus. CT with contrast en-
hancement: normal optic nerves; large, dense, homoge-
neous hypothalamic glioma extending into the region
of thc left basal ganglia
302
6.2.3 Craniopharyngioma
Craniopharyngiomas develop from the epitheli-
al remnants of Rathke's pouch. They form well-
delimited tumors of variable consistency, de-
pending on the volume of the solid portion of
the tumor which may contain calcifications, and
the degree of cystic degeneration. The cysts are
filled with a thick, sometimes gelatinous fluid
rich in cholesterol.
Craniopharyngiomas represent about 50%
of the sellar and suprasellar tumors in infancy
and childhood (4, 7, 12, 19). In spite of their
congenital origin, craniopharyngiomas manifest
clinically at any age: very occasionally they oc-
cur in the neonatal period (2, 9), but the peak
incidence is around the age of 13-15 years (12).
In our series of 60 patients, age at diagnosis var-
ied from 2 to 15 years, with a mean'of 6 years
7 months.
The clinical symptoms appeared to be more
severe in our series than in other published series
(3, 4, 10, 11, 15). Nineteen children had a signifi-
cant loss in visual acuity and eight were nearly
blind. Ophthalmoscopic examination revealed
Intracranial Tumors
Fig. 6.69a-d. A 2-ycar-old boy with optic chiasm glioma
discovered in the neonatal period. It was decided to ab-
stain from instituting treatment. CT with contrast en-
hancement: marked macrocrania (head circumference =
74 cm) with dilatation of the ventricles and the peri-
pheric subarachnoid spaces; large heterogeneous chias-
matic glioma (a, b) with extension into the right basal
ganglia region (c, d)
different stages of optic atrophy in 25 children
and papilledema in 12 children. Growth delay
was noted in 37 cases, generally associated with
skeletal maturation. Signs of increased intracra-
nial pressure existed in 28 cases. Somnolence
without signs of increased intracranial pressure
occurred in five children. Diabetes insipidus (be-
fore operation) was noted in seven children, cra-
nial nerve palsies in two children, nystagmus
and hemiparesis in one child each.
Skull films were very informative in nearly
all cases. Deformation and enlargement of the
sella turcica was noted in 56 of the 60 cases,
intra- and suprasellar calcifications in 42 cases,
and signs of increased intracranial pressure in
24 cases.
The CT appearance of craniopharyngioma
can be extremely heterogeneous (1,7, 8, 14, 16,
17, 18). In most cases it is rather characteristic,
but in some cases may be quite misleading.
CT was performed at the diagnostic stage
in 40 of our 60 cases and as a follow-up exami-
nation in all cases. In the cases seen at the diag-
nostic stage the tumor was large, with a supra-
sellar extension of more than 2 cm, in 34 cases.
Craniopharyngioma
There was a small suprasellar extension (below
2 em) in three cases, and the tumor was strictly
intrasellar in only three cases (Fig. 6.70).
The suprasellar extensions were usually ver-
tical, progressively compressing the third ventri-
cle and arriving in apparent contact with the
interfrontal septum in 18 cases (Figs. 6.72-
6.76). In seven cases there was a large retrosellar
extension into the posterior fossa (Figs. 6.71,
6.77), in four cases into the temporal fossa
(Fig. 6.77), and in three cases into the anterior
frontal region (Fig. 6.75).
Before contrast enhancement the density of
craniopharyngiomas was always heterogeneous,
with areas of edematous density, areas of brain
tissue density, and areas of calcifications. Calci-
fications were observed in 32 cases. CT general-
ly indicated their extent through the tumor more
accurately than skull films, but never discovered
them in cases where they had not been seen on
skull films. Better detection of intrasellar calcifi-
cations on tomograms may be due to the fact
that linear intra sellar calcifications may be con-
founded with the sellar walls on CT images.
Tumoral cysts existed in 31 of the 34 larger
craniopharyngiomas. The presence of a cyst
could be suspected either on the basis of the
round, distended configuration of part of the
tumor or because of a round area of decreased
density within the tumor. In fact, the density
of the cysts was extremely variable: most often
of the edema type, but in some cases similar
to or even higher than that of the surrounding
brain (Figs. 6.72-6.75, 6.77). There was no con-
trast enhancement within the cysts, and their
variably thick walls showed scattered calcifica-
tions in half the cases.
Contrast enhancement was always heteroge-
neous (Figs. 6.71,6.72,6.76) and rarely marked.
Its appreciation was difficult in heavily calcified
tumors. Dilatation of the lateral ventricles by
obstruction of the third ventricle occurred in
23 cases (Figs. 6.71 d-f, 6.72, 6.73, 6.75, 6.76a,
b) and was marked in 11 of them.
In nearly all cases, CT was followed by pre-
operative angiography to determine the location
of the anterior cerebral arteries, and thus indi-
rectly of the optic chiasm. Elevation of the first
portion of the anterior cerebral artery, noted
303
in 18 cases, indicated the possibility of a sub-
frontal operative approach. Sagittal NMR
views with high spatial resolution will eventually
allow precise location of the optic chiasm in
the future.
The classical treatment of craniopharyn-
gioma was neurosurgical and aimed at complete
excision of the tumor (4, 11, 15, 21). In large
tumors, in retrochiasmatic forms, and in tumors
with large extensions into the temporal and pos-
terior fossas, attempts at complete excision
carry a definite risk of neurologic sequelae. Ra-
diotherapy has shown definite efficacy in recent
series (5, 6, 13) and its indications have progres-
sively enlarged. Evaluation of therapeutic effi-
cacy is difficult because of the unpredictable
spontaneous evolution of most craniopharyn-
giomas. The tumor may remain constant in size
for several years and then suddenly grow rapid-
ly. Tumoral recurrence may occur as late as 7-
9 years (personal series) or even 20 years (4)
after operation. Reports of series followed up
for less than 5 years are thus very limited in
significance.
In our series of 60 patients with follow-up
examinations, 53 have been operated on. In ten
patients partial excision was complemented by
cranial irradiation, and in two patients the sole
treatment was radiotherapy. In eight children
with relatively small intra- and suprasellar cran-
iopharyngiomas, the tumoral appearance re-
mained unchanged on follow-up examinations
for up to 4 years, and no decision on therapy
has been arrested.
In the cases with operation only, follow-up
CT scans revealed enlargement of the sub frontal
and suprasellar arachnoid spaces and a large
sella turcica containing CSF. Residual calcifica-
tions implied the possibility of persisting tu-
moral tissue, though persistence or recurrence
could only be confirmed in the presence of a
parenchymatous mass presenting contrast en-
hancement and/or a tumoral cyst. Subfrontal
neurosurgical operation may lead to significant
focal atrophy, generally of the right frontal lobe,
which may be associated with frontal lobe dis-
orders (5).
In the cases with radiotherapy, regression
of the tumor or residual tumor was slow, with
304
progressive retraction of the tumoral tissue and
calcification in the 2 years following treatment
(Figs. 6.76, 6.77). Sequelae directly imputable to
irradiation included deafness in one patient with
a large extension into the posterior fossa and
two cases of acute hemiplegia by obstruction
of the middle cerebral artery. Malignant glioma
in the years following cranial irradiation for
craniopharyngioma has been reported in one
case (20).
References
1. Altinors N, Senveli E, Erdogan A et al. (1984) Cran-
iopharyngioma of the cere bello-pontine angle. J
Neurosurg 60: 842-844
2. Azar-Khia B, Uttamapalayam RK, Schechter NM
(1975) Neonatal craniopharyngioma. J Neurosurg
42:91-93
3. Banna M (1976) Craniopharyngioma: based on
160 cases. Br J Radiol49: 206-223
4. Bartlett JR (1971) Craniopharyngiomas - a summa-
ry of 85 cases. J Neurol Neurosurg Psychiatry
34:37-41
5. Cavazutti V, Fischer EG, Welch K et al. (1983) Neu-
rological and psychophysiological sequelae follow-
ing different treatments of craniopharyngioma in
children. J Neurosurg 59:409-417
6. Fischer EG, Welch K, Bell JA et al. (1985) Treat-
ment of craniopharyngiomas in children: 1972-1981.
J Neurosurg 62:496-501
7. Fitz CR, Wortzman G, Harwood-Nash DC et al.
(1978) Computed tomography in craniopharyngio-
mas. Radiology 127: 687-691
8. Hatam A, Bergstrom M, Greitz T (1979) Diagnosis
of sellar and parasellar lesions by computed tomog-
raphy. Neuroradiology 18: 249-258
Intracranial Tumors
9. Helmke K, Hausdorf G, Moehrs D et al. (1984)
CCT and sonographic findings in congenital cranio-
pharyngioma. N euroradiology 26: 523-526
10. Kahn EA, Gosch HH, Seeger JE et al. (1973)
45 years experience with craniopharyngioma. Surg
Neurol1:5-12
11. Katz EL (1975) Late results of radical excision of
craniopharyngiomas in children. J Neurosurg
42:86-90
12. Koos WT, Miller MH (1971) Intracranial tumors
of infants and children. Thieme, Stuttgart
13. Kramer S, Southard M, Mansfield CM (1968) Ra-
diotherapy in the management of craniopharyngio-
mas. Am J Roentgenoll03: 44-52
14. Lipper MH, Kishore PRS, Ward JD (1981) Cranio-
pharyngioma: unusual computed tomographic pre-
sentation. Neurosurg 9: 76-78
15. Matson DD, Crigler JF (1969) Management ofcran-
iopharyngioma in childhood. J Neurosurg 30:
377-391
16. Mori K, Handa H, Murata T et al. (1980) Cranio-
pharyngiomas with unusual topography and asso-
ciated with vascular pathology. Acta Neurochir
(Wien) 53: 53-68
17. Nagasawa S, Handa H, Yamashita J et al. (1983)
Dense cystic craniopharyngioma with unusual ex-
tensions. Surg N eurol 19: 299-301
18. Naidich TP, Pinto RS, Kushner MU et al. (1976)
Evaluation of sellar and parasellar masses by com-
puted tomography. Radiology 120:91-99
19. Russell DS, Rubinstein LJ (1977) Pathology of tu-
mors of the nervous system, 4th edn. Williams and
Wilkins, Baltimore
20. Sogg RL, Donaldson SS, Yorke CH (1978) Malig-
nant astrocytoma following radiotherapy of cranio-
pharyngioma. J Neurosurg 48: 622-627
21. Symon L, Sprich W (1985) Radical excision of
craniopharyngioma. J Neurosurg 62: 174-181
Craniopharyngioma 305

Fig. 6.70a-d. A 12-year-old girl with statural hypotro- I>

phy, low osseous age (9 years). CT with contrast en-
hancement: moderate sellar enlargement, small, dense,
partially calcified intrasellar mass (a, b); normal appear-
ance of the suprasellar cisterns. The most probable diag-
nosis is that of craniopharyngioma

Fig. 6.71 a-f. A 14-year-old boy with delayed growth and

headache. CT with contrast enhancement: large sella
turcica (a) with large intrasellar calcification extending
into the suprasellar and pontine (b, c) cisterns; small
parenchymatous mass in the left part of the pontine
cistern adjacent to the basilar artery (a, b). No therapy
was undertaken. Five months later the patient presented
with signs of increased intracranial pressure and palsy
of the right VIth and VIIth cranial nerves. CT with con-
trast enhancement (d-f) : marked increase of the tumoral
size with parenchymatous extensions into the right angle
cistern and into the region of the third ventricle, leading
to obstructive hydrocephalus

• ~ '," i.. -
306
Fig. 6.72a--e. A 5-year-old boy with acute signs of in-
creased intracranial pressure and diminution of visual
activity. CT with contrast enhancement: clear enlarge-
ment of the sella turcica (a); large cystic craniopharyn-
gioma extending from the sella to the septum and ob-
Intracranial Tumors
structing the third ventricle. The cyst is of edematous
density and surrounded by a thin tumoral wall showing
contrast enhancement, but no calcification. Direct punc-
ture of the cyst yields a brown fluid and rapidly improves
the clinical troubles (d, e)
Craniopharyngioma
Fig. 6.73a-c. A 10-year-old boy with short stature, signs
of increased intracranial pressure, diminution of visual
acuity, papilledema. CT with contrast enhancement:
large intrasellar calcification (a); cystic craniopharyn-
gioma extending from the sella to the frontal septum
Fig. 6.74a-d. A 9-year-old boy with short stature, de-
layed osseous development, sudden decrease of visual
acuity. CT with contrast enhancement: large cystic cra-
niopharyngioma extending from the sella turcica to the
frontal septum. The cyst contains a fluid presenting a
density close to that of CSF; its walls are largely calcified
in their inferior part
307
and obstructing the third ventricle. The cyst is oval, of
a density close to that of the surrounding brain. Absence
of contrast enhancement of the cyst walls, which show
a small anterior calcification (b, c). Treatment: puncture
of the cyst followed by operation
Fig.6.75a-d. A 7-year-old boy with statural hypotro-
phy, signs of increased intracranial pressure. CT with
contrast enhancement: enlargement of the sella turcica
with intrasellar calcification; large suprasellar cysts ex-
tending below the frontal lobes (b, c) and into the region
of the third ventricle. The cyst walls are particularly
thin and show no contrast enhancement nor calcifica-
tions. Obstructive hydrocephalus. Operation: cranio-
pharyngioma
308
Fig. 6.76a-f. A 12-year-old boy with signs of increased
intracranial pressure, bitemporal hemianopsia, papille-
dema, arrest of statural growth since 2 years previously.
CT with contrast enhancement: large, essentially solid
craniopharyngioma with multiple calcifications, exten-
sions to the left angle cistern (a) and to the frontal sep-
tum (b); marked dilatation of the lateral ventricles. Total
tumoral excision is considered impossible. Treatment:
shunt operation, radiotherapy. Follow-up CT 1 year
after radiotherapy: clear decrease of tumoral size (c, d);
posterior fossa extension still reaches the basilar artery
and leads to cystic dilatation of the left angle cistern.
Follow-up CT 2 years after radiotherapy (e, f): persist-
ing residual calcification in the suprasellar cisterns; no
tumoral cyst or solid tumor are detectable. 4 years after
irradiation the boy has no neurologic problems
Intracranial Tumors
Fig. 6.77 a-f. A 7-year-old boy with signs of increased
intracranial pressure, diplopia, strabismus, diminution
of visual acuity of the right eye, left quadrantanopia.
CT with contrast enhancement (a--c): enlargement of
the sella turcica with large intrasellar calcification, essen-
tially cystic craniopharyngioma bulging into the posteri-
or fossa (a, b) and into the left temporal fossa (a--c).
The density of the cyst is close to that of the brain tissue.
The cyst walls are thick and present large calcifications
in the suprasellar region, thin without contrast enhance-
ment in the temporal region. Treatment: Partial ex-
cision, radiotherapy. 3 years later the boy is doing well.
CT with contrast enhancement: residual calcifications
in the suprasellar region and along the posterointernal
border of the left temporal lobe; moderate atrophy of
the left temporal lobe (d-f)
Pituitary Adenoma 309

6.2.4 Pituitary Adenoma cause of its repercussions on growth and pu-

berty.
Pituitary adenomas are relatively rare in child-
hood. They represent 1.5% of all intracranial
6.2.4.2 ACTH Adenoma
tumors in a large neurosurgical series (10). In
a series of pediatric endocrine patients 19 ad- Cushing's disease with macroadenoma present
enomas, compared to about 100 craniopharyn- at the diagnostic stage is exceptional in child-
giomas, were observed (1). Pituitary adenomas hood (11, 14). In the majority of cases Cushing's
appear to be exceptional in infancy and early disease is due to a pituitary microadenoma (1,
childhood. The majority of the cases observed 3) that may show rapid growth in the years fol-
fall into the period around puberty, between 9 lowing adrenalectomy, resulting in Nelson's
and 17 years. syndrome (12) in about 25% of the children
Clinical symptoms, hormone levels, and the (9).
histology of the tumor allow distinction of sev- The findings on skull films and CT are thus
eral groups of pituitary adenomas, of which two generally normal in Cushing's disease. In our
are more frequent in childhood. experience detection of pituitary microadenoma
by means of CT is fortuitous. In a series of
adult patients correlation between CT findings
6.2.4.1 Prolactin Adenoma
and opera tory observations was considered as
The main clinical signs in prolactin adenomas bad (2).
consist of delayed growth, headache, delay of Transsphenoidal surgical exploration re-
puberty, and amenorrhea (1). In our series of vealed a pituitary microadenoma in most chil-
ten cases pallor and asthenia appeared as fre- dren with Cushing's disease (3) with increased
quent signs. Visual disturbances were observed level of ACTH.
in three patients. Hormonal investigation re- Melanodermia, asthenia, and frequently vi-
veals a clear increase in prolactin, generally as- sual disturbances are the main clinical signs of
sociated with a partial or complete deficit in Nelson's syndrome. Skull films always show sel-
growth hormone, TSH, ACTH, and gonadotro- lar enlargement (1). On CT the adenoma was
pins (1, 7). Osseous maturation is retarded. always large, dense, and homogeneous after
Plain skull films show clear sellar enlarge- contrast enhancement. In one case a large ad-
ment with thinning and erosion of the sellar enoma led to compression of the internal caro-
walls and obliquity of the sellar floor, giving tid artery.
a double silhouette on lateral projections. Surgery mostly fails to normalize ACTH lev-
CT shows the adenoma as a mass with a els, and radiotherapy is generally indicated.
spontaneous density close to that of the brain
tissue, located within the sella turcica. Contrast
6.2.4.3 Growth Hormone Adenoma
enhancement was marked and homogeneous in
all cases. Childhood prolactin adenomas were Growth hormone adenomas are rare in child-
all large and invasive, showing extensions into hood (1). In the two cases in our series - boys
the suprasellar cisterns, and displaced the caver- of 14 and 15 years - they were associated with
nous sinus (Figs. 6.78, 6.79, 6.81, 6.82). signs of acromegaly and gigantism.
Treatment is essentially neurosurgical and On CT the adenoma was relatively small and
consists in trans sphenoidal excision of the ad- intrasellar in both cases. (Fig. 6.80).
enoma (3, 8); however, prolactin levels generally Surgical excision rarely normalizes growth
remain elevated after surgery (1). Bromocriptine hormone levels, and radiotherapy may be indi-
may lead to decrease of tumor size and normal- cated (1).
ization of prolactin levels in some cases (1). Ra-
diotherapy appears efficient in adults (4), but
its indications remain limited in children be-
310
6.2.4.4 Pituitary Hyperplasia
Pituitary hyperplasia detectable on CT was ob-
served in three personal cases, all of them chil-
dren with hypothyroidism and no substitutive
therapy (6, 13). Plain skull films showed moder-
ate enlargement of the sella turcica, CT a small
intrasellar mass with homogeneous contrast en-
hancement. Follow-up CT scans after substitu-
tive therapy demonstrated reduction in the size
of the intra sellar mass (5).
References
1. Chaussain JL, Barrio R, Roger Met al. (1980) Pitui-
tary adenomas in childhood. In: Derome JP, J e-
dynak CP, Peillon F (eds) Pituitary adenomas. As-
clepios Publishers, France, pp 113-118
2. Davis PC, Hoffman JC, Tindall GT et al. (1985)
Prolactin secreting pituitary micro adenomas : inac-
curacy of high-resolution CT-imaging. Am J Roent-
genoI144:151-156
3. Derome JP (1985) Personal communication
4. DeSchryver A, Van de Kerckove D, Debruyne G
(1980) Prolactin-secreting pituitary adenoma. Ob-
servations in irradiated patients. Acta Radiol Oncol
19:169-175
5. Diebler C, Merland JJ, Grosvalet A et al. (1980)
Intracranial Tumors
CT-Scan contribution to the diagnosis of intracrani-
al tumors and mass lesions in infancy and child-
hood. Prog Pediatr Radiol 7: 1-99
6. Floyd JL, Dorwart RH, Nelson MJ et al. (1984)
Pituitary hyperplasia secondary to thyroid failure:
CT appearance. Am J Neuroradiol 5: 469--471
7. Grisoli F, Guigout M, Jacquet P et al. (1978) Les
adenomes it prolactine prepubertaires. Nouv Presse
Med 7:1819-1822
8. Guiot G (1958) L'exen.':se des adenomes de l'hypo-
physe par voie transsphenoidale. In: Guiot G (ed)
Adenomes de l'hypophyse. Masson, Paris, pp 165-
180
9. Hopwood NJ, Kenny FM (1977) Incidence of Nel-
son's syndrome after adrenalectomy for Cushing's
disease in children. Am J Dis Child 131: 1353-1356
10. Koos WT, Miller MH (1971) Intracranial tumors
of infants and children. Thieme, Stuttgart
11. Miller WL, Townsend JT, Grumbach MH et al.
(1979) An infant with Cushing's disease due to an
adrenocorticotropin producing adenoma. J Clin
Endocrinol Metab 48: 1017-1025
12. Nelson DH, Meakin JW, Dealy JB et al. (1958)
ACTH producing tumors of the pituitary gland. N
Engl J Med 259: 161-164
13. Sultan C, Pages A, Dumas R et al. (1974) Adenomes
thyreotopes reactionnels. Ann Endocrinol 35:
585--586
14. Sumner TE, Volberg FM (1982) Cushing's syn-
drome in infancy due to pituitary adenoma. Pediatr
RadioI12:81-83
Fig. 6.78 a, b. A 14-year-old boy with growth delay since
the age of 12 years, pallor, headache, hyperprolactine-
mia. Skull films: moderate sellar enlargement with obli-
quity of the sellar floor. CT with contrast enhancement:
asymmetrical sellar enlargement, small intrasellar ad-
enoma. Operation: prolactin adenoma
Pituitary Adenoma 311

Fig. 6.79a-c. A 12-year-old boy with asthenia, delayed with central depression of the floor (a) containing an
growth and osseous development, hyperprolactinemia. adenoma with small suprasellar extension
CT with contrast enhancement: enlarged sella turcica

Fig. 6.80 a, b. A 16-year-old boy with acromegaly-gi-

gantism, elevation of growth hormone. CT: clearly en-
larged sella turcica containing a large adenoma

Fig.6.81a-d. A 15-year-old boy with delayed growth I>

and puberty, left temporal hemianopsia. CT with con-
trast enhancement: enlarged, symmetrical sella turcica
containing a dense, homogeneous adenoma with large
supra- and laterosellar extensions
312
6.2.5 Rare Tumors of the Sphenoidal
and Sellar Region
6.2.5.1 Chordoma
Intracranial chordomas are most often located
along the clivus. When developed from the ante-
rior part of the clivus, they may present as a
sellar mass with endocrine disorders including
hyperprolactinemia, with palsies of the oculo-
motor nerves and with decrease of visual acuity.
(1,6, 7).
Plain skull films and especially tomograms
suggest the diagnosis of a mass of osseous,
sphenoidal origin because of the destruction of
Intracranial Tumors
Fig. 6.82a-g. A 14-year-old boy with retarded growth,
bitemporal hemianopsia, signs of increased intracranial
pressure, hyperprolactinemia. CT with contrast en-
hancement: adenoma invading the sphenoidal sinus and
the posterior ethmoidal cells (a, b), large suprasellar ex-
tension to the frontal septum (d, e) with obstruction
of the third ventricle. Transsphenoidal operation leads
to rapid improvement of the visual disturbances. A post-
operative CT scan shows the membranes of the adenoma
surrounding a cavity of CSF density (f, g)
the sphenoid bone and the deformation of the
sella turcica with superior and anterior displace-
ment of the sellar floor; however, these signs
may be partially lacking in large chordomas.
On CT chordoma presents as a well-delim-
ited mass with a spontaneous density close to
that of the brain tissue and frequent calcifica-
tions, usually showing distinct, irregular con-
trast enhancement.
6.2.5.2 Chondroma
Intracranial chondroma is a rare tumor which
usually develops from the spheno-occipital syn-
chondrosis (3, 4). Distinction from chordoma
Rare Tumors of the Sphenoidal and Sellar Region
is thus generally impossible on the basis of clini-
cal and radiologic findings except in association
with Ollier's diesease, as was the case in two
personal observations in a girl of 7 years (5) and
an adult of 27 years.
6.2.5.3 Sphenoidal Mucocele
Mucoceles are slowly evolutive, benign masses
of the paranasal sinuses with progressive disten-
sion and opacity of the sinus involved. Owing
to their location sphenoidal mucoceles may lead
to oculomotor palsies, decrease of visual acuity,
and even exophthalmos, as in one personal case
(Fig. 6.83) (9).
Plain skull films and tomograms reveal opa-
city and distension of the sphenoidal sinus with
thinning and sometimes destruction of its walls.
On CT the mucocele is spontaneously dense
with no increase in density after contrast en-
hancement, except for its walls (10). Intracranial
extensions may mimic sellar tumors (Fig. 6.83).
6.2.5.4 Lymphosarcoma of the Cranial Basis
In four personal cases lymphosarcoma was re-
vealed by tumoral infiltration of the cranial ba-
sis with destruction of the sphenoid bone and
tumoral extension into the basal cisterns. Clini-
cal signs included nasal obstruction, cranial
nerve palsies, and asthenia.
Skull films showed destruction of part of the
sphenoid bone and of the clivus with irregular
limits, suggesting a malignant process of rapid
evolution. On CT the lymphosarcoma presented
as a homogeneous mass with clear increase in
density after contrast administration (2). Tu-
moral cells on hemogram or biopsy of the phar-
yngeal mass were diagnostic.
6.2.5.5 Histiocytosis X
Cerebral involvement is rare in histiocytosis X
(see Sect. 8.2). Though diabetes insipidus is one
of the more frequent neurologic signs of histio-
cytosis, constituting, in association with skeletal
lacunae and exophthalmos, the Hand-Schiiller-
Christian syndrome, there is a relative lack of
313
evidence of neuroradiologically detectable tu-
mors of the region of the anterior third ventri-
cle. In a recently reported series (8), 12% of
sellar tumors corresponded to histiocytosis X as
diagnosed on the basis of associated skeletal la-
cunae. This astonishingly high frequency has
been reported in no other large series. In our
experience CT was normal in eight of nine cases
of histiocytosis X with diabetes insipidus.
In one case, a 9-year-old boy with diabetes
insipidus and growth hormone deficit, skull
films showed progressive and asymmetrical en-
largement of the sella and erosion of its walls
(Fig. 6.84). CT after contrast enhancement
showed a small, dense, homogeneous intra sellar
mass. The mass showed manifest evolutivity and
in 15 months displayed supra- and retrosellar
extensions. Transsphenoidal biopsy revealed a
tumor compatible with histiocytosis X on histo-
logic examination. This boy had no skeletal la-
cunae.
References
1. Banna M, Baker ML, Houser OW (1980) Pituitary
and parapituitary tumors on computed tomogra-
phy. J RadioI53:1123-1143
2. Curless RG (1980) Cranial computerized tomogra-
phy in childhood leukemia. Arch Neurol 37:
306-307
3. Derome P (1972) Les tumeurs spheno-ethmoidales.
Neurochirurgie [Suppll] 18:1-164
4. Deviitis E, Spaziante R, Civillo S et al. (1979) Prima-
ry sellar chondromas. Surg Neurolll :229-232
5. Diebler C, Merland JJ, Grosvalet A et al. (1980)
CT -Scan contribution to the diagnosis of intracrani-
al tumors and mass lesions in infancy and child-
hood. Prog Pediatr Radiol 7: 1-99
6. Elias Z, Powers SK (1985) Intrasellar chordoma and
hyperprolactinemia. Surg Neurol 23: 173-176
7. Gyldensted C, Karle A (1977) Computed tomogra-
phy of intra- and juxtasellar lesions. Neuroradiology
14: 5-13
8. Miller JH, Pena AM, Segall HD (1980) Radiological
investigation of sellar masses in children. Radiology
134:81-87
9. Osborne AG, Johnson L, Roberts TS (1979) Sphe-
noidal mucoceles with intracranial extension. J
Comput Assist Tomogr 3: 335-336
10. Perugini S, Pasquini U, Menichelli F et al. (1982)
Mucoceles in the paranasal sinuses involving the or-
bit: CT -signs in 43 cases. N euroradiology 23:
133-139
314 Intracranial Tumors

Fig. 6.83a-g. A 12-year-old girl with slight hypertelor-

ism, exophthalmos, and obstruction of the rhinophar-
ynx. Skull film: large mass with calcified contours ex-
tending from the palate to the suprasellar region; disap-
pearance of the sphenoidal bone; opacity of the posteri-
or ethmoidal cells (g). CT with contrast enhancement:
large mass of the sphenoethmoidal region obstructing
the posterior nasal fossae (d-f) and extending into the
suprasellar region (c). The mass presents a center of ede-
matous density and is surrounded by a thin osseous
membrane, best seen on frontal views (d-f). Operation:
mucocele
Tumors of the Basal Ganglia
Fig. 6.84a-d. A 9-year-old boy with diabetes insipidus,
growth hormone deficit, progressive enlargement of the
sella turcica. CT with contrast enhancement: dense in-
trasellar mass with suprasellar and left laterosellar exten-
sions. Transsphenoidal biopsy: tumor histologically
compatible with histiocytosis X
6.3 Tumors of the Cerebral Hemispheres
6.3.1 Tumors of the Basal Ganglia
Tumors of the basal ganglia and of the thalami
are defined essentially by their location on neu-
roradiologic examinations. Basal ganglia tu-
mors represent about 6% of intracranial tumors
(3).
In various reported series (1-4) and in a per-
sonal series of 31 cases, the age at diagnosis var-
ied from 5 months to 15 years, with a peak inci-
dence between 8 and 10 years. The female sex
predilection noted in one series (2) is not found
in the others.
Clinical manifestations vary largely, accord-
ing to how far the tumor extends beyond the
thalamus and the basal ganglia into the adjacent
structures: the internal capsule, the midbrain,
and the adjacent lobes of the cerebral hemi-
spheres. The interval between the first clinical
sIgns and the diagnosis rarely exceeded
315
1 month; only three patients had partial com-
plex seizures for 2-8 years prior to diagnosis.
As in other series, the most frequent neu-
rologic sign in our series, was hemiparesis with
pyramidal signs (22 cases). In eight cases, hemi-
paresis was combined with dystonia and inten-
tion tremor. Sixteen patients had signs of in-
creased intracranial pressure. Less frequently
observed neurologic signs were lateral homony-
mous hemianopsia (six cases), facial paresis (five
cases), unilateral hearing loss (three cases), nys-
tagmus (one case), strabismus (one case), and
limb paresthesias.
On CT tumors of the basal ganglia were
grossly located between the frontal horn, the
third ventricle, and the ventricular trigone. The
tumor occupied this whole area in nine cases
(Figs. 6.85, 6.89). It was located in the anterior
part, behind the frontal horn, in five cases
(Fig. 6.88), centrally in five cases (Fig. 6.86),
and posteriorly between the ventricular trigone
and the rostral part of the third ventricle in
316
12 cases. Recognition of the mass effect caused
by these tumors is essential for the diagnosis
when the tumor is infiltrating and its density
is close to that of the surrounding brain (five
cases) (Fig. 6.89 a-c):
The frontal horn may be displaced anteriorly
and compressed.
- The third ventricle may be displaced laterally
and compressed, causing dilatation of the lat-
eral ventricles.
The ventricular trigone may be displaced lat-
erally and posteriorly and compressed, and
the temporal horn thus shows asymmetrical
dilatation.
The floor of the lateral ventricle may be dis-
placed laterally and elevated.
In our series of 31 patients the histologic na-
ture of the tumor was known in only 14 cases.
Most basal ganglion tumors are astrocytic,
varying from benign pilocytic and cystic astro-
cytomas to malignant astrocytomas. In a series
of 41 verified tumors, half were low-grade astro-
cytomas and half were malignant tumors (1).
Identification of the histologic nature of the
tumor was generally impossible on CT, with the
exception of the 5 cases of cystic astrocytoma
with mural nodule. Cystic tumors with irregular
tumoral walls more frequently corresponded to
glioblastomas. NMR examination was per-
formed in three patients in our series, but gave
no better information on the nature of the tu-
mor than CT (Fig. 6.86).
Fig. 6.85a-c. A 2-year-old boy with acute hemiparesis,
signs of increased intracranial pressure, papilledema. CT
with contrast enhancement: large heterogeneous tumor
Intracranial Tumors
Angiography was performed in all cases, es-
sentially in preparation for surgical exploration.
In no case did it give more precise information
on tumor location and nature.
Complete neurosurgical excision of basal
ganglia tumors is generally impossible (1). Oper-
ation is thus limited to partial resection and
biopsy. Radiotherapy, advised by some authors
only for malignant tumors (1), was given in all
cases in our series (4) and was followed in five
cases by clear regression in size (Fig. 6.90) or
even disappearance of the tumor (4). The histo-
logic nature of the tumor was unknown in these
cases. In patients with malignant tumors, evolu-
tion was rapidly unfavorable (Fig. 6.89). In our
experience, the patients who may show the grea-
test improvement after radiotherapy are those
with benign tumors.
References
1. Bernstein M, Hoffman HI, Halliday WC et al. (1984)
Thalamic tumors in children. Long-term follow-up
and treatment guidelines. 1 Neurosurg 61 :649-656
2. Cheak WR, Taveras 1M (1966) Thalamic tumors. 1
Neurosurg 24: 505-513
3. Koos WT, Miller MH (1971) Intracranial tumors of
infants and children. Thieme, Stuttgart
4. Mayer M, Ponsot G, Kalifa C et al. (1982) Tumeurs
des noyaux gris chez l'enfant. A propos de 38 obser-
vations. Arch Fr Pediatr 39: 91-95
with ill-defined limits in the region of the right basal
ganglia obstructing the third ventricle
Tumors of the Basal Ganglia 317

Fig. 6.87 a, b. A 9-year-old girl with progressive dystonic

hemiparesis. CT with contrast enhancement: tumor of
the region of the right basal ganglia with homogeneous
moderate contrast enhancement, a large intratumoral
calcification, and compression of the third ventricle

Fig. 6.86a-f. A 13-year-old girl with right hemiparesis

with intention tremor, signs of increased intracranial
pressure. CT before (a) and after contrast enhancement:
round tumor in the center of the region of the left basal
ganglia, of edematous density before contrast enhance-
ment (a) and showing a dense circular center after (IHJ).
Sagittal (d) and horizontal (e) NMR gives the same in-
formation. Biopsy: benign astrocytoma

Fig. 6.88a-d. A 5-year-old boy with right hemiparesis,

dystonia, and paresthesias in the right upper limb. CT
after contrast enhancement (a, b): tumor of the region
of the right basal ganglia presenting a dense periphery
and a center of CSF density suggesting a cyst. Two years
after radiotherapy the boy has normal results on neu-
rologic examination. Follow-up CT with contrast en-
hancement: complete disappearance of the tumor, small
residual zone of edematous density (c, d)
318 Intracranial Tumors

D.
Fig. 6.89a-f. A 6-year-old boy with progessive apathy,
somnolence, change in behavior, and dysmetria of the
left upper limb. CT with contrast enhancement: mass
of the same density as the brain, detected only indirectly
by compression and displacement of the right frontal
horn, right ventricular trigone and third ventricle, eleva-
tion of the floor of the right lateral ventricle (c), and
dilatation of the lateral ventricles. Evolution is rapidly
progressive. A second CT scan 2 weeks later (d-f): two
zones of contrast enhancement in the thalamic region
(d) and behind the frontal horn (f), marked progression
of dilatation of the lateral ventricles. Death occurred
7 months after onset of clinical manifestations

<l Fig. 6.90a--d. A 2-year-old girl with hemiparesis, signs

of increased intracranial pressure. CT after contrast en-
hancement: large dense tumor of the left thalamic re-
gion, clear dilatation of the lateral ventricles (a, b).
Treatment: shunt operation, radiotherapy. At the age
of 6 years the girl has normal development, presents re-
sidual hemiparesis. CT (c, d): large calcification at the
location of the tumor, no evidence of tumor recurrence;
edematous appearance of the posterior part of the tem-
porallobes with small calcifications due to irradiation
Choroid Plexus Papilloma
6.3.2 Choroid Plexus Papilloma
Choroid plexus papillomas derive from the epi-
thelium of the choroid plexus. They are relative-
ly rare but seem to occur more frequently in
childhood:40% of the choroid plexus papillo-
mas reported in the literature have occurred in
children under 10 years, and 20% in infants
under 1 year of age (4). In childhood nearly all
papillomas are situated in the lateral ventricles;
papillomas of the third ventricle (1) and fourth
ventricle are exceptional. Bilateral papillomas
suggest tumor growth through the choroidal
fissure into the quadrigeminal cistern and the
contralateral ventricle (8) (Fig. 6.95).
The papillomas are well-delimited tumors
attached to the choroid plexus and presenting
normal plexus structure (9), sometimes with
transitional areas resembling ependymoma (6).
The tumor distends the ventricular walls with-
out invading them. Metastases along the CSF
pathways are rare, as are malignant tumor
forms.
The clinical manifestations are usually lim-
ited to macrocrania or signs of increased intra-
cranial pressure, as in eight of ten personal
cases. Hydrocephalus may be observed even in
small, noncompressive papillomas and is
thought to result from excessive secretion of
CSF (2, 10). It is generally communicating (4,
5, 8). Focal seizures were the first sign in two
children in our series with normal findings on
neurologic examination. Hemiparesis and som-
nolence were observed in two cases.
Skull films revealed signs of increased intra-
cranial pressure in eight cases and a large unilat-
eral calcification of a choroid plexus in one case.
Cranial asymmetry was noted in four cases.
CT in all cases not only detected the tumor
but also gave a correct indication of its nature.
On unenhanced CT the papilloma appeared as
a homogeneous mass of a density similar to that
of the surrounding brain; its limits were difficult
to define. After contrast enhancement tumor
opacification was intense and homogeneous in
all cases. Tumor limits were always well circum-
scribed (Figs. 6.91, 6.93). Peritumoral edema
was noted in three cases. The tumor was located
in the region of the choroid plexus in all cases,
319
and this is one of the principal signs indicating
the nature of the tumor (3). Large papillomas
progressively fill the lateral ventricle (Figs. 6.91,
6.93) and may extend through the choroid
fissure to the contralateral ventricle (Fig. 6.95).
Ventricular dilatation occurred in eight
cases. It was grossly symmetrical and suggested
communicating hydrocephalus in six cases. In
two cases a small papilloma led to obstruction
of the ventricular trigone with cystic dilatation
of the inferior and posterior horns (Figs. 6.92,
6.94). On angiography the papilloma always
presented as a richly vascularized mass with a
clear tumoral blush (Fig. 6.93 a, b). Hypertrophy
of the anterior and/or posterolateral choroid
arteries suggests the diagnosis of papilloma.
Neurosurgical excision is the treatment of
choice for choroid plexus papillomas (4: 5, 7,
8). It simultaneously improves the hydrocepha-
lus (Fig. 6.92), and in only two of eight personal
cases was shunt operation necessary because of
persisting evolutive hydrocephalus.
References
1. Diebler C, Merland JJ, Grosvalet A et al. (1980)
CT -Scan contribution to the diagnosis of intracrani-
al tumors and mass lesions in infancy and child-
hood. Prog Pediatr Radiol 7: 1-99
2. Ghatak NR, McWorther 1M (1976) Ultrastructural
evidence for CSF production by choroid plexus pa-
pilloma. 1 Neurosurg 45:409-415
3. Kendall B, Reide-Grosswasser I, Valentine A (1983)
Diagnosis of masses presenting within the ventricles
on computed tomography. Neuroradiology 25: 11-
22
4. Koos WT, Miller MH (1971) Intracranial tumors
of infants and children. Thieme, Stuttgart
5. Matson DD, Crofton FDL (1960) Papilloma of the
choroid plexus III childhood. 1 Neurosurg
72:1002-1027
6. MeiLiu H, Boggs 1, Kidd 1 (1976) Ependymomas
of childhood. Child's Brain 2:92-110
7. Milhorat T, Hammock MK, Davis DA et al. (1976)
Choroid plexus papilloma. Child's Brain 2: 273-289
8. Raimondi Al, Guttierez FA (1975) Diagnosis and
surgical treatment of plexus papilloma. Child's
Brain 1 :81-115
9. Russell DS, Rubinstein LJ (1977) Pathology of tu-
mours of the nervous system, 4th edn. Williams and
Wilkins, Baltimore
10. Veiga-Pires lA, Dosseter RS, VanNieuwenhuizen 0
(1978) CT-Scanning for papilloma of choroid plex-
us. Neuroradiology 17: 13-16
320 Intracranial Tumors

/'::,.

Fig. 6.91 a--c. A l-year-old girl with progressive macro-

crania since the age of 9 months. CT with contrast en-
hancement: oval, well-delineated mass projecting into
the right ventricular trigone, communicating hydroce-
phalus. Operation: choroid plexus papilloma

<J Fig. 6.92a-f. A 17-month-old girl with progressive sym-

metrical macrocrania for 4 months. CT before (a, b) and
after (c, d) contrast enhancement: small mass in the re-
gion of the left choroid plexus, of the same spontaneous
density as the brain with marked homogeneous increase
in density after injection of contrast material; cystic dila-
tation of the posterior half of the left lateral ventricle
which is obstructed by the tumor. Postoperative CT:
collapse of the cystic ventricular dilatation with large
peripheral collections of CSF which will progressively
vanish over a period of several months (e, f)
Choroid Plexus Papilloma 321

Fig. 6.93a-f. A 3-year-old boy with recent partial motor

seizures, normal examination, zone of slow waves on
EEG. CT with contrast enhancement (c-t): large, dense,
round, well-delineated mass in the region of the right
ventricular trigone, surrounded by a large halo of ede-
matous density; no ventricular dilatation, the right tem-
poral horn excepted. Carotid arteriography: vasculariza-
tion of the tumor from branches of the enlarged anterior
carotid artery ( a); marked tumoral blush (b). Opera-
tion: choroid plexus papilloma

Fig. 6.94a--c. A 13-month-old boy with marked macro- the region of the right choroid plexus; cystic dilatation
crania, somnolence. CT with contrast enhancement: of the right lateral ventricle with compression of the
round, dense, homogeneous, well-delineated tumor of third ventricle and herniation into the posterior fossa
322
6.3.3 Ependymoma
Ependymomas of the cerebral hemispheres are
typical infancy and childhood tumors (4).
About 30%-50% are supratentorial in location
(1,3). The incidence of malignant ependymoma
or ependymoblastoma is significantly higher in
supratentorial than in infratentoriallesions (3);
about half of all supratentorial ependymomas
are malignant (1, 3).
The ependymoma develops from the epen-
dymal lining of the lateral ventricles, but the
main tumor may be located in any part of the
cerebral hemispheres and present only minimal
contact with the ventricular ependyma. In
15%-46% of the cases the ependymoma may
have an essentially intraventricular develop-
ment. The risk of local relapse and of metastases
correlates best with the histologic grading of the
tumor (1, 7).
In supratentorial as in infratentorial ependy-
momas there is a clear male predominance. Su-
pratentorial ependymomas may be observed
from the neonatal period on; the mean age in
Intracranial Tumors
Fig. 6.95a-d. A 4-year-old girl with signs of increased
intracranial pressure, hemiparesis, and progressive visual
loss. CT before (a, b) and after contrast enhancement
(c, d): large papilloma distending the posterior part of
the left lateral ventricle and extending through the cho-
roid fissures into the right lateral ventricle
a series of 25 cases was between 7 and 8 years
(1). The main clinical manifestations are signs
of increased intracranial pressure (90%), focal
neurologic deficits (50%), disturbances of con-
sciousness (40%), and seizures (15%) (1). Clini-
cal presentation was unusual in two of 11 per-
sonal observations. In a 1-month-old girl, onset
was marked by progressive macrocrania, ca-
chexia, and tumoral meningitis with proteinora-
chia of 13 gil (Fig. 6.96). Operation revealed a
right temporal ependymoblastoma. A 10-year-
old boy followed up for apparent cerebral he-
miplegia with mental retardation since infancy
suffered progressive worsening of his neurologic
problems and a follow-up CT scan led to the
discovery of the tumor.
Plain skull films most frequently showed
signs of increased intracranial pressure. Intra-
cranial calcifications were rarely detectable.
The CT appearance of supratentorial epen-
dymoma is polymorphous, with no characteris-
tic signs suggesting the nature of the tumor. Be-
fore contrast enhancement the ependymoma
presents as a mass of heterogeneous density with
Ependymoma
alternation of areas of edematous and brain tis-
sue density. Multiple, small calcifications are
frequent in other reported series (5, 8) and were
observed in eight of our 11 patients. After con-
trast enhancement a moderate to marked irregu-
lar increase in density was observed in all cases.
Persisting round areas of edematous density
suggesting intratumoral cysts were observed in
six of 11 cases (Fig. 6.98). The limits of the tu-
mor were generally blurred. Signs of tumor
seeding along the ventricular walls (two cases)
and into the subarachnoid spaces (two cases)
(Figs. 6.96, 6.97, 6.99) at the diagnostic stage
were more frequent in ependymoma than in any
other supratentorial tumor. The tumor was es-
sentially intraventricular in two cases.
Preoperative angiography, performed in all
cases demonstrated a tumoral blush in four but
only indirect signs in seven.
Operation was considered as complete in
five cases, partial in three cases, and only explo-
ratory in three cases. Immediate radiotherapy
. . . tracranial ependymomas in childhood: survival and
was gIven m nme cases.
Tumor recurrence and metastases were ob-
served in five cases 11 months to 4 years after
treatment, presenting as a local recurrence (two
cases), as a single metastasis in the posterior
fossa (one case), as multiple periventricular me-
tastases (one case) (Fig. 6.100), or as a spinal
323
mass (two cases). The children with tumor seed-
ing present at the diagnostic stage died in the
months following onset of the clinical signs.
Only three patients from our series are doing
well 3-6 years after treatment. In published se-
ries the 5-year survival rate is generally below
20% (2, 3, 6).
References
1. Bessa E (1984) Les ependymomes intracraniens de
I'enfant. A propos d'une serie de 92 cas observes a
I'IOR. These, Paris, Pitie-Salpetriere
2. Coulon RA, Till K (1977) Intracranial ependymomas
in children: a review of 43 cases. Child's Brain
3: 154-168
3. Dohrman OJ, Farwell JR, Fannery JT (1975) Epen-
dymomas and ependymoblastomas in children. J
Neurosurg 45: 273-282
4. Koos WT, Miller MH (1971) Intracranial tumors of
infants and children. Thieme, Stuttgart
5. Naidich TP, Zimmerman RA (1984) Primary brain
tumors in children. Semin Roentgenol19: 100-114
6. Pierre-Kahn A, Hirsch JF, Roux FX et aI. (1983) In-
functional results of 47 cases. Child's Brain
10:145-156
7. Renaudin JW, Tullio MVD, Brow JW (1979) Seeding
of intracranial ependymomas in children. Child's
Brain 5: 408--412
8. Svartz JD, Zimmerman RA, Bilaniuk LT (1982)
Computed tomography of intracranial ependymo-
mas. Radiology 143: 97-101
324
Fig. 6.96a-d. A 6-week-old girl with tremor of the limbs,
progressive macrocrania, cachexia, tumoral meningitis.
CT before (a, b) and after (c, d) contrast enhancement:
heterogeneous tumor with dense periphery, center of
edematous density, numerous small calcifications, in-
tense contrast enhancement in periphery; tumor seeding
along the ventricular walls with secretion of contrast
material into the lateral ventricles, which show marked
dilatation (c, d). Biopsy: ependymoblastoma
Intracranial Tumors
Fig. 6.97 a-d. A 6-year-old girl with seizures, signs of
increased intracranial pressure, homonymous lateral he-
mianopsia, and tumoral meningitis. CT before (a) and
after (b-d) contrast enhancement: small calcification
within a tumor of spontaneously edematous density (a),
located in the left temporal lobe; marked increase in
density of the tumor (b-d), which is heterogeneous and
shows blurred limits; tumor seeding along the walls of
the left lateral ventricle and into peripheral subarachnoid
spaces. Biopsy: ependymoblastoma
Fig. 6.98 a, b. An ll-year-old girl; hemiparesis, lateral
homonymous hemianopsia, signs of increased intracra-
nial pressure. CT with contrast enhancement: large het-
erogeneous tumor of the right frontoparietal region with
dense periphery and cystic center. Operation: ependy-
moma
Astrocytoma
Fig. 6.99a-d. A 30-month-old boy with signs of in-
creased intracranial pressure, partial motor seizures, he-
miparesis, decrease of visual acuity. CT with contrast
enhancement: dense, heterogeneous tumor with ill-delin-
eated limits in the lower part of the right frontal lobe
(a, b) extending to the region of the right basal ganglia
(a, d); tumor seeding along the internal border of the
right temporal lobe (a-c) to the right crural cistern (d)
and the interfrontal interhemispheric fissure; communi-
cating hydrocephalus. Biopsy: ependymoblastoma
6.3.4 Astrocytoma
The astrocytomas of the cerebral hemispheres
can be divided into benign tumors - astrocyto-
mas grade I and II, including pilocytic (spon-
gioblastoma), fibrillary, protoplasmic, gemisto-
cytic, and subependymal giant cell (in tuberous
sclerosis) astrocytomas (15) - and malignant tu-
mors - astrocytomas grade III and IV. In the
malignant astrocytomas we have arbitrarily in-
cluded glioblastoma multiforme, frequently re-
ferred to as grade IV astrocytoma, though its
immature, poorly differentiated cells mean that
325
Fig. 6.100a-d. A 7-year-old girl who at the age of 4 years
had an operation for left, frontal ependymoma and now
has signs of increased intracranial pressure, papilledema.
CT with contrast enhancement: left frontal operation
cavity; communicating hydrocephalus; diffuse tumor
seeding in the basal cisterns (a, b) and around the third
and lateral ventricles (c, d)
this tumor is actually considered as an embryo-
nal tumor (15).
In a series of 193 supratentorial tumors in
children (9), the 65 hemispheric astrocytomas
were considered as benign in 41 cases (63 %) and
as malignant in 24 cases (37%).
6.3.4.1 Benign Astrocytoma (Grade I, II)
In a large series of low-grade astrocytomas in
children and adults, 52 of 461 cases occurred
in patients aged less than 20 years (6). In 22 per-
sonal cases partial seizures were the most fre-
326
quent revealing sign. Hemiplegia and signs of
increased intracranial pressure were noted in
nine cases. Three infants presented with asym-
metrical macro crania in the neonatal period (3)
(Fig. 6.109).
Skull films were frequently normal; only
rarely did they reveal intracranial calcifications
(three cases), cranial asymmetry (five cases) or
signs of increased intracranial pressure (six
cases).
We excluded two cases of subependymal
giant cell astrocytoma from this series because
of their particular clinical and radiologic presen-
tation (see Chap. II: Tuberous Sclerosis).
The CT appearance of benign astrocytomas
in childhood is heterogeneous and rarely char-
acteristic. Of edematous density before contrast
enhancement, 18 of our 22 astrocytomas
showed a marked heterogeneous increase in
density after injection of contrast material
(Figs. 6.101, 6.102, 6.104, 6.108, 6.109). These
findings correspond with those of other series
(2, 10, 11, 14) in children and adults, but con-
trast with descriptions of the CT appearance
of low-grade astrocytomas in adults (1, 8) as
showing no or little contrast enhancement. Tu-
moral cysts (Figs. 6.101,6.102,6.108,6.109) ex-
isted in nine large tumors in our series and were
noted in 20%-55% of cases in the literature
(9, 11). Peritumoral edema was absent or mod-
erate in nearly all the cases in our series.
Complete excision, when possible, is the
treatment of choice and gives a chance of defini-
tive cure. The prognosis is clearly better in chil-
dren than in adults (6) and in patients showing
no neurologic deficit before operation (6). Ra-
diotherapy may improve the survival rate (7).
In four cases, where excision was only partial
tumor growth was slow; the appearance of the
tumor hardly changed in the years following op-
eration.
6.3.4.2 Malignant Astrocytoma (Grade III, IV)
Malignant astrocytoma in the cerebral hemi-
spheres is uncommon in childhood, representing
only 2% of all intracranial tumors (4).
In our series of 21 patients with malignant
astrocytomas signs of increased intracranial
pressure were noted in 17 cases, hemianopsia in
Intracranial Tumors
four cases, astereognosia in two cases, aphasia
in one case, seizures in ten cases, and symmetri-
calor asymmetrical macrocrania in three cases
in the neonatal period. Duration of the neu-
rologic signs was short, exceeding 1 month in
only three cases.
Plain skull films showed signs of increased
intracranial pressure in 15 cases and spotty cal-
cifications in four cases.
On CT the tumor was always large and its
heterogeneous appearance increased after con-
trast enhancement, with alternating areas of
high and edematous density (Figs. 6.104-6.106,
6.108, 6.109). Cystic or necrotic intra tumoral
zones were observed in ten cases (Figs. 6.105-
6.107, 6.110, 6.111). The limits of the tumor
were blurred in half the cases. Peri tumoral ede-
matous reaction was rarely marked. In four
cases the tumor density was close to that of
the brain tissue, and contrast enhancement only
moderate and partial; exact delimitation of the
tumor was thus impossible (Fig. 6.104). Intra-
cranial seeding was noted at the diagnostic stage
in three cases (Fig. 6.107) and temporal hernia-
tion (13) in two cases.
Angiographic distinction between benign
and malignant astrocytomas was possible in
only four cases where there was tumoral neovas-
cularizarion. Tumoral blush was observed in
about one-third of benign and malignant astro-
cytomas.
Surgical removal was incomplete in all cases,
and despite radiotherapy nearly all patients died
within 2 years following diagnosis. The progno-
sis in our series was as bad as that in most of
the reported series - a 5-year survival rate of
2.5% - contrasting with a recent report of a
series with a 5-year survival rate of 45%.
Follow-up CT showed rapid tumor growth
- despite chemotherapy - until death.
References
1. Butler AR, Horii SC, Kricheff H et al. (1978) Com-
puted tomography in astrocytomas. Radiology
129:433-439
2. Claveria LE, Kendall BE, DuBoulay GH (1977)
Computerized axial tomography in supratentorial
gliomas and metastases. In: DuBoulay GH, Mose-
Astrocytoma
ley JF (eds) Computerized axial tomography in clini-
cal praxis. Springer, Berlin Heidelberg New York,
pp 85-93
3. Diebler C, Merland n, Grosvalet A et al. (1980)
CT-Scan contribution to the diagnosis of intracrani-
al tumors and mass lesions in infancy and child-
hood. Prog Pediatr Radiol 7: 1-99
4. Dohnnann GJ, Farwell JR, Flannery JT (1976)
Glioblastome multiforme in children. J Neurosurg
44:442-448
5. Farwell JR, Dohrmann GJ, Flannery JT (1977) Cen-
tral nervous system tumors in children. Cancer
40:3123-3132
6. Laws ER Jr, Taylor WF, Clifton MB et al. (1984)
Neurosurgical management of low-grade astrocy-
toma of the cerebral hemispheres. J Neurosurg
61:665-673
7. Leibel SA, Sheline GE, Wara WM et al. (1975) The
role of radiation therapy in the treatment of astrocy-
tomas. Cancer 35:1551-1557
8. Lewander R, Bergstrom M, Bergvall U (1978) Con-
trast enhancement of cranial lesions in computed
Fig. 6.101a-c. A 9-year-old boy with isolated signs of
increased intracranial pressure. CT with contrast en-
hancement: essentially cystic tumor of the region of the
right ventricular trigone; the solid part of the tumor
327
tomography. Acta Radiol Diagn (Stockh)
19:529-552
9. Mercuri S, Russo A, Palma L (1981) Hemispheric
supratentorial astrocytomas in children: long-tenn
results in 29 cases. J Neurosurg 55: 170--173
10. Naidich TP, Zimmerman RA (1984) Primary brain
tumors in children. Semin Roentgenol 19: 100--114
11. Pedersen H, Gjerris F, Klinken L (1981) Computed
tomography of benign supratentorial astrocytomas
of infancy and childhood. Neuroradiology 21 : 87-91
12. Phophanich S, Edwards MSB, Levin VA et al.
(1984) Supratentorial malignant gliomas of child-
hood. J Neurosurg 60:495-499
13. Stoyring J (1977) Descending tentorial herniation:
findings on computed tomography. Neuroradiology
14: 101-105
14. Tadmor R, Harwood-Nash DC, Scotti G et al.
(1982) Intracranial neoplasms in children: the effect
of computed tomography on age distribution. Radi-
ology 145:371-373
15. Ziilch KJ (1980) Principles of the new WHO classifi-
cation of brain tumors. Neuroradiology 19: 59-66
shows marked contrast enhancement and a large calcifi-
cation (b, c); secretion of contrast material within the
cyst (b, c). Operation: cystic astrocytoma grade II
328 Intracranial Tumors

<J Fig. 6.102a-d. A 2-year-old boy with signs of increased

intracranial pressure, macrocrania, paresis, and tremor
of the right upper limb. CT with contrast enhancement:
large cystic astrocytoma of the center of the left cerebral
hemisphere; solid part of tumor located in temporotha-
lamic region (a, b). Conservative treatment with repeat
punctures of the tumoral cyst improving the neurologic
symptoms for periods of up to 6 months. CT at the
age of 4 years (c, d): size of solid tumor grossly un-
changed; swelling of tumoral cyst (before puncture) with
secretion of contrast material into the cyst

Fig.6.103a--e. An ll-year-old boy with repeat partial

motor seizures, behavioral disturbances, normal neu-
rologic examination. CT before (a) and after (b, c) con-
trast administration: benign frontal astrocytoma of ede-
matous density without contrast enhancement
'V

Fig. 6.104a--e
 Astrocytoma
Fig. 6.106a-d. A 2-year-old boy with progressively wor-
sening hemiparesis since the age of 10 months, signs of
increased intracranial pressure, macrocrania. CT before
(a) and after (b-d) contrast enhancement: large, hetero-
geneous tumor with central calcification (b, c) and multi-
ple cysts (b-d). Partial resection: grade III astrocytoma
<l Fig. 6.104a--c. A 16-year-old girl with acute left facial
palsy and signs of increased intracranial pressure. Neu-
rologic symptoms rapidly worsen and lead to death in
5 months. CT with contrast enhancement 4 months after
onset of neurologic symptoms: malignant astrocytoma
of the right cerebral hemisphere invading the corpus cal-
losum: tumor density close to that of brain tissue with
small areas of edematous density and zones with moder-
ate contrast enhancement
329
Fig. 6.105a--c. A 7-year-old boy with signs of increased
intracranial pressure, drowsiness, hemiparesis. CT with
contrast enhancement: dense heterogeneous tumor with
edematous center, large calcifications (c), surrounded by
a large halo of edematous density, compressing the right
lateral ventricle. Operation: partial excision of a gra-
de III astrocytoma
Fig. 6.107 a-d. A 3-year-old girl with signs of increased
intracranial pressure, hemiparesis, facial palsy, ataxia,
and left pyramidal syndrome. CT with contrast enhance-
ment: heterogeneous, malignant astrocytoma of the
center of the right cerebral hemisphere with large central
calcifications (d) and subarachnoid seeding into the pos-
terior fossa (a, b), the suprasellar cisterns, and the con-
tralateral ventricle
330
Fig. 6.108a-d. A 7-year-old girl operated on at the age
of 4 years for astrocytoma of the dorsal medulla, now
presenting with signs of increased intracranial pressure
and drowsiness. CT with contrast enhancement: large
frontocallosal astrocytoma with a density close to that
of the brain tissue and only ill-delineated zones of mod-
erate contrast enhancement
Intracranial Tumors
Fig.6.109a-d. A 3-month-old boy with macrocrania
noted at delivery and diagnosis of benign but inoperable
astrocytoma in the neonatal period. Follow-up CT be-
fore (a) and after (b--d) contrast enhancement: heteroge-
neous, spontaneously opaque tumor showing clear in-
crease in density after injection of contrast material
Fig. 6.110a-d. A 2-day-old boy with congenital macro-
crania. CT with contrast enhancement: heterogeneous,
dense tumor of the center of the left cerebral hemisphere;
marked ventricular dilatation. Operation: congenital
glioblastoma multiforme
Oligodendroglioma
Fig. 6.111a-c. A 3-day-old boy with asymmetrical con-
genital macrocrania. CT with contrast enhancement:
heterogeneous, ill-delineated tumor of the posterior half
6.3.5 Oligodendroglioma
Oligodendrogliomas are considered rare in
childhood (2, 3), though series including adult
and pediatric cases (1) show two peaks in the
curve of age distribution, one around 10 years
and one between 30 and 40 years of age. About
one-third of oligodendrogliomas occurs in
childhood (1).
Oligodendrogliomas are slow-growing tu-
mors which have a high tendency to calcify. The
slow growth explains the delay between the on-
set of the first clinical signs and operation, fre-
quently exceeding 5 years (1). The most frequent
clinical manifestations are partial seizures, the
type of which depends on the tumoral location
(1, 4, 5), with focal slow waves on EEG. Neu-
rologic deficits are generally late signs.
Plain skull films may show focal intracranial
calcifications. These are common in adults but
rare in childhood, being observed in two of six
personal cases.
On CT oligodendroglioma may appear as
a small mass of edematous density without con-
trast enhancement located in a cortical region.
Thinning of the adjacent inner table of the skull
has been reported as a typical sign (5)
(Fig. 6.114), but was also observed in one case
of benign microcystic astrocytoma in our series
(Fig. 6.115). In other cases the tumor may have
the classical appearance of oligodendroglioma
in adulthood (6): a heterogeneous tumor with
331
of the left cerebral hemisphere invading the corpus callo-
sum (c). Operation: Glioblastoma multiforme
areas of contrast enhancement, areas of edema-
tous density, large calcifications, and intratu-
moral cysts (Figs. 6.112, 6.113). The outlines of
the tumor may appear blurred. Peritumoral ede-
matous reaction is generally moderate or ab-
sent.
Angiography may remain normal in small
oligodendrogliomas, but may reveal vascular
displacements in larger tumors, and occasional-
ly a tumoral blush (1). The treatment of choice
is complete neurosurgical excision (1, 3); pa-
tients undergoing partial removal may benefit
from radiotherapy (1,2).
References
1. Chin HW, Hazel JJ, Kim TH et al. (1980) Oligoden-
drogliomas. A clinical study of cerebral oligoden-
drogliomas. Cancer 45: 1458-1466
2. Dohrman GJ, Farwell JR, Flannery JT (1978) Oligo-
dendrogliomas in children. Surg NeuroI10:21-25
3. Earnest F, Kernohan JW, Craig WM et al. (1950)
Oligodendrogliomas. A review of 200 cases. Arch
Neurol Psychiatr 63: 964-976
4. Pelc S, Brihaye J, Perier 0 et al. (1977) Temporal
lobe oligodendroglioma developing from infancy into
adulthood. Ann Neurol 2: 537-540
5. Varma RR, Crumrine PK, Bergman I et al. (1983)
Childhood oligodendrogliomas presenting with sei-
zures and low density lesions on computed tomogra-
phy. Neurology 33: 806--808
6. Vonofakos D, Marcu H, Hacker H (1979) Oligoden-
drogliomas: CT-patterns with emphasis on features
indicating malignancy. J Comput Assist Tomogr
3:783-788
332 Intracranial Tumors

Fig. 6.112a-d. A 7-year-old boy with behavioral distur-
bances, diabetes insipidus, decrease of visual acuity, op-
tic atrophy on fundoscopic examination. Skull films:
frontal and suprasellar calcifications. CT with contrast
enhancement: heterogeneous tumor with large calcifica-
tions (a--c), areas of contrast enhancement, and a large
cyst (c, d). The tumor stretches from the ethmoidal to
the left upper frontal region. Angiography: moderate
tumoral blush. Operation: oligodendroglioma. Radio-
therapy
Fig. 6.114a-d. A 12-year-old boy with isolated focal mo-
tor seizures, normal neurologic examination, and a focus
of slow waves on EEG. CT with contrast enhancement:
oligodendroglioma presenting as a well-delimited area
of edematous density in the left frontal lobe and thinning
of the adjacent inner table of the vault (c, d)

Fig. 6.113 a, b. A 9-year-old boy with partial seizures,

lateral homonymous hemianopsia. Skull film: large cal-
cification in the region of the left choroid plexus. CT
with contrast enhancement: edematous tumor without
detectable enhancement presenting a large calcification
and a small posterior cyst. Operation: oligodendro-
glioma Fig.6.115a-d
 Meningeal Tumors 333

6.3.6 Meningeal Tumors 6.3.6.2 Meningosarcoma

Meningosarcomas and primitive neuroectoder-
6.3.6.1 Meningioma
mal tumors (3) offer a confusing spectrum of
Meningiomas are rare in childhood; their fre- malignant, rapidly growing tumors observed es-
quency varies from 0.5% to 2.8% in large series sentially in infancy and childhood. Histologic
of intracranial tumors in children (4, 5). They classification of these tumors is frequently diffi-
clearly increase in frequency after the age of cult because of their heterogeneous presentation
10 years (1). Neurofibromatosis is observed in - a mixture of zones with astroglial and oligo-
24% of pediatric cases. Low-dose cranial irradi- dendroglial cells and zones of primitive, undif-
ation, as in leukemia, may induce intracranial ferentiated cells resembling medulloblastoma or
meningiomas (6, 7). germinoma.
We have observed five children aged 3- In the eight cases in our series, age at diagno-
15 years presenting benign, fibromatous men- sis varied from 1 month to 9 years. Duration
ingioma. The location was ethmoidal in one of the clinical signs before diagnosis rarely ex-
case, intraventricular and combined with tuber- ceeded 1 month. All patients presented with
ous sclerosis in one case, and at the convexity signs of increased intracranial pressure; hemi-
in three cases. Clinical signs depended largely paresis was noted in six cases, hemianopsia in
on the location and included: seizures (three four cases, and seizures in four cases.
cases), signs of increased intracranial pressure Skull films showed signs of increased intra-
(two cases), hemiparesis (one case) and exoph- cranial pressure in six cases, asymmetrical bulg-
thalmia (one case). ing of the temporal fossa in three cases, and
Skull films most frequently show signs of thinning and erosion of the vault in two cases.
osseous condensation at the implantation of the Similar findings have been reported in other se-
meningioma and deformation of the cranial ries (3).
structures; osseous erosion is more exceptional. On CT the tumor was always large and het-
On CT meningioma most frequently has a erogeneous, as reported in other series (3). Be-
characteristic appearance (8). The tumor has a fore contrast enhancement the tumor presented
spontaneous density close to that of the brain a mixture of areas of brain tissue density, ede-
tissue and shows a clear, homogeneous increase matous density, and CSF density, suggesting
in density after contrast enhancement (see this cysts. Calcifications were observed in two cases.
chapter: Fig. 6.49d) Its limits are well defined. Injection of contrast material led to marked in-
Tumoral cysts are rare. The adjacent osseous crease in density of portions of the tumor delin-
structures may show condensation, more rarely eating large cysts (Figs. 6.117, 6.118). The tu-
erosion (Fig. 6.116). mor was always in close contact with the men-
Angiography may reveal vascularization by inges and the cranial structures. Tumor growth
branches of meningeal arteries in convexity is rapid, as could be observed particularly in
meningiomas. one case (Fig. 6.117). Signs of temporal hernia-
Neurosurgical excision of the tumor is the tion with lateral displacement of the fourth ven-
treatment of choice. tricle were observed in three cases (2).
Tumoral excision was considered as com-
plete in two cases, partial in six. Operation was
~~----------------------------------
complemented in all cases by radiotherapy.
Fig. 6.115a-d. A 7-year-old girl with intractable partial Three patients presented secondarily with me-
motor seizures since the age of 4 years, normal neu-
rologic examination. CT with contrast enhancement: tu-
tastases in the central nervous system.
mor of edematous density located in the right frontal
lobe with thinning of the adjacent inner table of the
vault. Though the neuroradiological presentation is
identical with that in the case illustrated in Fig. 6.114,
operation revealed a microcystic astrocytoma
334
References
1. Deen HG Jr, Scheithauer BW, Ebersold MJ (1982)
Clinical and pathological study of meningiomas of
the first two decades of life. J Neurosurg 56:317-322
2. Diebler C, Merland 11, Grosvalet A et al. (1980) CT-
Scan contribution to the diagnosis of intracranial tu-
mors and mass lesions in infancy and childhood. Prog
Pediatr Radiol 7: 1-99
3. Kingsley DPE, Harwood-Nash DCF (1984) Radio-
logical features of the neuroectodermal tumours of
childhood. N euroradiology 26: 463-467
4. Koos WT, Miller MH (1971) Intracranial tumors of
infants and children. Thieme, Stuttgart
Fig. 6.116a-d. A 6-year-old boy; signs of increased in-
tracranial pressure, papilledema, drowsiness. CT before
(a) and after (b-d) contrast enhancement: large tumor
of the left temporoparietal region in close contact with
the cranial vault; erosion of the internal and external
tables; spontaneous density of the tumor is similar to
that of brain tissue; contrast enhancement is marked,
heterogeneous; outlines of the tumor are well defined.
Angiography: intense tumoral blush; vascularization is
provided by meningeal arteries. Operation: fibromatous
meningioma
Intracranial Tumors
5. Matson DD (1969) Neurosurgery of infancy and
childhood. Thomas, Springfield
6. Soffer D, Pittaloga S, Feiner M et al. (1983) Intracra-
nial meningiomas following low-dose irradiation of
the head. J Neurosurg 59: 1948-1053
7. Tiberin P, Maor E, Zaizov R et al. (1984) Brain sar-
coma of meningeal origin after cranial irradiation in
childhood acute lymphocytic leukemia. J Neurosurg
61 :772-776
8. Wiggli U, Elke M, Miiller HR et al. (1976) The CT-
pattern of meningioma. Is it specific? In: Lanksch
W, Kazner E (eds) Cranial computerized tomogra-
phy. Springer, Berlin Heidelberg New York, pp 162-
166
Fig. 6.117 a-d. A 2-month-old boy with frequent partial
motor and complex seizures, normal neurologic exami-
nation. CT with contrast enhancement (a, b): right tem-
poral tumor, in close contact with the vault; the tumor
is heterogeneous, presenting an area with clear contrast
enhancement and an area of edematous density; its lim-
its are blurred. The infant unfortunately escaped regular
surveillance and treatment. Five months later he pre-
sented asymmetrical macrocrania, left hemisparesis. A
second CT scan with contrast enhancement (c, d) shows
clear progression of the size of the tumor, with a dense
portion along the vault and multiple cysts. Operation:
meningeal sarcoma
Intracranial Metastases of Extracranial Tumors
Fig. 6.1l8a-d. A 6-year-old girl with generalized sei-
zures, vertigo, signs of increased intracranial pressure.
CT with contrast enhancement: dense temporal tumor
adherent to the vault and presenting a large anterior
cyst. Internal carotid arteriography: avascular temporal
mass. Vascularization was provided by meningeal
branches of the external carotid artery. Operation: men-
ingeal sarcoma. Radiotherapy. At the age of 11 years
the patient has persisting, controlled epilepsy, slight psy-
chomotor retardation, normal neurologic examination
6.3.7 Intracranial Metastases
of Extracranial Tumors
Intracranial metastases of extracranial tumors
are of high frequency in adults, but rare in chil-
dren (3). We have observed this complication
in 11 children between 3 and 15 years. The origi-
nal tumor - osteosarcoma in two cases, Wilm's
tumor in one case, rhabdomyosarcoma in three
cases, and neuroblastoma in five cases - had
been diagnosed and treated 1-4 years previously
in ten patients. In the remaining case, a 3-year-
old girl with seizures, hemiparesis, and signs of
increased intracranial pressure, the multiple in-
tracranial metastases were found to originate
from a small adrenal neuroblastoma.
Intracranial metastases of osteosarcoma,
rhabdomyosarcoma, and Wilm's tumor (5) have
no distinctive features. Most often of edematous
density before contrast enhancement, they pres-
335
ent a clear increase in density after. Intratu-
moral hemorrhage was observed in two cases.
The clinical and neuroradiologic presenta-
tion of intracranial neuroblastoma is character-
istic. The tumor may be an intracranial primary
(2, 6) or a metastasis of an occult or diagnosed
extracranial neuroblastoma (1, 6). Distinction
of primary and metastatic intracranial neurob-
lastoma is usually difficult. In six personal ob-
servations of intracranial neuroblastoma the tu-
mor was metastatic in five cases and considered
as primary in one case. Clinical manifestations
of intracranial neuroblastoma include signs of
increased intracranial pressure, seizures, as-
thenia, and focal neurologic deficits. In myoc-
lonic encephalopathy, frequently associated
with thoracoabdominal neuroblastoma, cranial
CT is generally normal. The levels of the urinary
metabolites of catecholamines may be diagnos-
tic.
336
Skull films may show osseous metastases
with erosion of ill-delineated areas of the vault
and along the sutures, mimicking split sutures.
Focal condensation with spiculation along the
inner table is observed in dural metastases.
On CT the location of metastatic neuroblas-
tomas was dural in three cases and dural and
cerebral (Fig. 6.119) in two cases; the one, ap-
parently primary intracranial neuroblastoma
was intracerebral. The tumor presented as a
mass slightly denser than the brain with a clear
increase in density after contrast enhancement.
Intracerebral metastases had blurred limits and
were surrounded by an edematous halo. Dural
metastases were well delimited (Fig. 6.120). In
the observation of primary cerebral neuroblas-
toma, a follow-up CT scan 1 year after opera-
tion and radiotherapy revealed diffuse periven-
tricular metastases (4).
Intracranial Tumors
References
1. Armstrong EA, Harwood-Nash DCF, Ritz CR et al.
(1982) CT of neuroblastomas and gangliogliomas in
children. Am J Roentgenol139: 571-576
2. Bennett JP, Rubinstein LJ (1984) The biological be-
havior of primary cerebral neuroblastoma: a reap-
praisal of the clinical course in a series of 70 cases.
Ann NeuroI16:21-27
3. Bloom HJG, Walsh LS (1975) Tumors of the central
nervous system. In: Bloom HJG, Lemerle J, Neidhart
MK et al. (eds) Cancer in children. Springer, Berlin
Heidelberg New York, pp 93-120
4. Diebler C, Merland 11, Grosvalet A et al. (1980) CT-
Scan contribution to the diagnosis of intracranial tu-
mors and mass lesions in infancy and childhood. Prog
Pediatr Radiol 7: 1-99
5. Han JS, Zee CS, Ahmadi J et al. (1983) Intracranial
metastatic Wilm's tumor in children: a report of
2 cases. Surg Neurol 20: 157-159
6. Latchaw RE, L'Heureux PR, Young G (1982) Neu-
roblastoma presenting as a central nervous disease.
Am J Neuroradiol 3: 623-630
Fig. 6.119a-d. A 3-year-old girl presenting rapidly evo-
lutive signs of increased intracranial pressure and right
hemiparesis. CT with contrast enhancement: dense
masses with blurred outlines along the vault of the fron-
toparietal regions, infiltrating the adjacent cerebral heme
ispheres; dilatation of the lateral ventricles; compression
of the left lateral ventricle. Suggested diagnosis of neu-
roblastoma, was confirmed by positive spot test and ab-
dominal echography showing a small adrenal mass
Ocular Tumors
Fig. 6.120a-c. A 12-year-old boy treated at the age of
6 years for abdominal neuroblastoma; recent signs of
increased intracranial pressure. CT with contrast en-
6.4 Orbital Tumors
Involvement of both orbital and intracranial
structures, extension of intracranial lesions into
the orbit, as in optic glioma, and intracranial
propagation of orbital lesions, as in retinoblas-
toma or rhabdomyosarcoma, justify their inclu-
sion into this section.
Orbital masses may be broken down by loca-
tion into ocular, intraconal, extraconal, and pre-
septal. Some tumors are confined to one loca-
tion: gliomas are always intraconal, neuroblas-
toma and histiocytosis are always extraconal.
Some tumors may occupy two or more com-
partments; e.g., hemangiomas and lymphangi-
omas may be intra- and extraconal. Malignant
tumors, such as retinoblastoma and rhabdo-
myosarcoma, are located in one compartment
at an early stage but may invade the whole orbit
at a late stage.
6.4.1 Ocular Tumors
6.4.1.1 Retinoblastoma
Retinoblastoma is the most frequent ocular tu-
mor of childhood, affecting 1 in 20000 children.
Ten percent of the cases are familial. Thirty per-
cent of all cases are bilateral, including 60%
337
hancement: dense mass developed along the right fron-
toparietal vault; the inner table shows abnormal spicula-
tion
of the familial cases (2). All the bilateral cases
are hereditary with dominant transmission; they
are thought to result from a double mutation
(5). Several cases with mental retardation and
multiple malformations have been reported, re-
lated to 13q - chromosomal abnormality (8).
Over 90% of the cases occur before the age of
4 years, earlier when the retinoblastoma is bilat-
eral (4). Leukocoria and strabismus are the most
frequent revealing signs. We have observed sev-
en patients with retinoblastoma, one case being
bilateral. The age of the patients ranged from
10 to 30 months when leukocoria was first noted
by the parents. The patient with bilateral reti-
noblastoma also had mental retardation, slight
facial dysmorphia, and axial hypotonia; karyo-
type revealed a 13q - chromosomal abnormal-
ity.
Skull films frequently reveal uni- or bilateral
intraorbital calcifications.
On CT the tumor appears as a polycyclic
dense mass attached to the retina, showing clear
contrast enhancement. Calcifications were ob-
served in five of seven cases (Figs. 6.122, 6.123).
One patient presented with tumoral recurrence
3 months after surgical removal: the tumor ex-
tended from the left orbit into the suprasellar
cisterns (Fig. 6.124). CT examinations done in
two cases with tumoral meningitis were normal.
338
6.4.1.2 Retinal Sarcoma
Retinal sarcoma, observed in a 16-year-old girl,
was revealed by unilateral visual loss and leuko-
coria. Ophthalmoscopic examination showed a
mass attached to the retina.
On CT the mass was round, apparently well
delimited, though the adjacent retina was thick-
ened, and showed marked contrast enhance-
ment (Fig. 6.121).
6.4.2 Intraconal Tumors
Optic nerve glioma is the only strictly intraconal
mass encountered in childhood, where optic
nerve meningiomas are exceptional. In our se-
ries we have observed 11 optic nerve gliomas,
which were isolated in two cases and associated
with a chiasmatic tumor in the other nine (see
Sect. 6.2.2.1).
We have not included in this series the cysts
of the optic nerve, as observed in coloboma,
because they are malformative and not tumoral
masses.
6.4.3 Intra- and Extraconal Tumors
6.4.3.1 Immature Hemangioma
Immature hemangioma appears in the neonatal
period and regresses spontaneously at about the
age of 4-7 years. The diagnosis is generally evi-
dent in the presence of involvement of the perio-
bital region and the eyelids. In large angiomas
proptosis and deformation of the eyeball com-
promises immediately, and frequently secondar-
ily, the visual function (see Vascular Sect. 5.3).
Of six personal cases, the immature heman-
gioma was intra- and extraconal in four and
extraconal in only two (Fig. 5.76).
6.4.3.2 Lymphangioma
Orbital lymphangioma was observed in three
children in our series, aged 1-7 years, presenting
with progressive proptosis. In two it was asso-
ciated with an extraorbitallocation of lymphan-
gioma. Skull films were always normal. On CT
the lymphangioma was intra- and extra conal in
all three cases and always had a heterogeneous
Intracranial Tumors
appearance increasing after contrast enhance-
ment with alternation of dense and cystic areas
(Fig. 6.127).
6.4.4 Extraconal Tumors
6.4.4.1 Rhabdomyosarcoma
Rhabdomyosarcoma of the orbit, a malignant,
rapidly evolutive tumor, was observed in three
children in our series presenting with proptosis.
In one case there was associated infiltration of
the eyelids.
Skull films revealed erosion of the internal
orbital wall with opacity of the adjacent ethmoi-
dal cells in one case and destruction of the inter-
nal portion of the sphenoidal wings in another.
On CT (3, 6), the tumor was extraconal in
one case, extraconal and preseptal in another
(Fig. 6.125), and invaded part of the muscular
cone and the sphenoidal fissure with erosion of
the larger and lesser sphenoidal wings in the
third case (Fig. 6.126). The appearance of the
tumor was variable, heterogeneous in two cases,
homogeneous in one case; contrast enhance-
ment was noted in all cases. Follow-up CT re-
vealed a large tumoral extension to the suprasel-
lar cisterns 1 year after treatment in one case.
6.4.4.2 Metastatic Neuroblastoma
Metastatic neuroblastoma in the orbit is similar
in many aspects to metastatic neuroblastoma
at intracranial locations, with which it is fre-
quently associated. Proptosis is the most fre-
quent revealing manifestation.
Skull films may show erosion of the osseous
structures. On CT (1, 6, 7) the metastatic neu-
roblastoma is generally in close contact with the
osseous structures of the orbit, which may be
eroded to such an extent that the tumor extends
through them into the intracranial comparti-
ment (6).
6.4.4.3 Histiocytosis X
Orbital locations of histiocytosis X are relative-
ly rare (three personal cases). Skull films and
CT show geographic lacunae of the orbital walls
which may extend to the vault and the facial
massif (Fig. 6.128).
Preseptal Tumors
6.4.4.4 Lymphoma
Tumoral lesions of the orbit are relatively rare
in childhood lymphoma (6). In the two cases
in our series, the tumor was pre septal and extra-
conal in one case, where it extended through
the ethmoidal cells into the intracranial com-
partment, and preseptal only in the other case
(Fig. 6.129).
6.4.4.5 Infection
Acute proptosis or swelling of the eyelids due
to infection of the orbit occurred in five cases
in our series, generally secondary to chronic or
post-traumatic infection of the paranasal sin-
uses.
CT revealed opacity of the ethmoidal cells
and of the sinuses and swelling of the orbital
muscles, but no circumscribed intraorbital mass.
6.4.5 Preseptal Tumors
Neurofibroma was the most frequent pre septal
tumor in our series. Most often it infiltrated
the eyelids only, but extraconal extensions were
Fig. 6.121 a, b. A 16-year-old girl with unilateral visual
loss and leukocoria. CT with contrast enhancement:
dense homogeneous tumor attached to the retina, appar-
ently well delimited. Operation: retinal sarcoma
339
not exceptional. Association of orbital neurofi-
broma with buphthalmos is classical. Diagnosis
is generally based on the presence of other signs
of neurofibromatosis (see Chap. 2).
References
1. Armstrong EA, Harwood Nash DCF, Ritz CR et al.
(1982) CT-Scan of neuroblastomas and ganglioneur-
omas in children. Am J Roentgenol139:571-576
2. Briard-Guillemot ML, Bonaiti-Pellie C, Feingold J
et al. (1974) Etude genHique du retinoblastome. Hu-
mangenetik 24:271
3. Hunter DW L'Heureux PR, Latchaw RE (1980)
Malignant facial tumors in children: radiological
evaluation. Pediatr Radioll0:2-8
4. Jansen RD, Miller RW (1971) Retinoblastoma. Epi-
demiologic characteristics. N Engl J Med 285: 307
5. Knudson AG (1971) Mutation and cancer: statistical
study of retinoblastoma. Proc Natl Acad Sci USA
68:820
6. Lallemand DP, Brasch RC, Char DH et al. (1984)
Orbital tumors in children. Radiology 151: 85-88
7. Latchaw RE, L'Heureux PR, Young G (1982) Neu-
roblastoma presenting as a central nervous disease.
Am J Neuroradiol 3: 623-630
8. O'Grady RB, Rothstein TB, Romano PE (1974) D-
group deletion syndromes and retinoblastoma. Am
J Ophtalmol 77: 40
Fig. 6.122 a, b. A 10-month-old girl with left leukocoria.
CT: polycyclic tumor implanted on the retina of the
left eye, presenting a large calcification. Operation: re-
tinoblastoma
340 Intracranial Tumors

Fig. 6.123a-d. A l-year-old girl with unilateral leuko-

coria. CT: a large retinoblastoma with extensive calcifi-
cations and integrity of the optic nerve

Fig. 6.124a-c. A 3-year-old boy operated on for unilat- mor. CT with contrast enhancement: large orbital tumor
eral retino blastoma; no radiotherapy; transferred extending through the enlarged optic foramen (a) into
3 months later for recurrence of a large intraorbital tu- the chiasmatic region (c)

Fig. 6.12Sa-c. A 10-year-old girl with a rapidly evolutive trating the eyelids, compressing and displacing down-
mass of the superointernal part of the right orbit. CT ward the eyeball (frontal view: c). Operation: rhabdo-
with contrast enhancement: heterogeneous tumor infil- myosarcoma
Pre septal Tumors 341

Fig. 6.126 a, b. A 4-year-old girl with rapidly progressing
proptosis. CT: destruction of the lesser and the internal
part of the larger sphenoidal wings; tumoral infiltration
of the apex of the muscular cone. Operation: rhabdo-
myosarcoma
Fig. 6.127 a, b. A 4-year-old boy with lymphangioma
along the nose and the internal angle of the right orbit,
moderate right proptosis. CT with contrast enhance-
ment: intra- and extraconal lymphangioma presenting
as a heterogeneous mass around the optic nerve (b)

Fig. 6.128a-c. A 4-year-old boy presenting an extensive external and posterior orbital walls and of the left tem-
form of histiocytosis X with slight left exophthalmos. poral vault, but no tumoral mass
CT with contrast enhancement: multiple lacunae of the

Fig. 6.129 a, b. A 12-year-old boy with Burkitt lym-

phoma revealed by a mass in the region of the nasion
infiltrating the eyelids, moderate bilateral exophthalmos.
CT with contrast enhancement: the mass is infiltrating
the superointernal part of the orbits, extending through
the ethmoid into the subfrontal region
7 Cranial Trauma
7.1 Physiopathology of the Cerebral
Lesions
Head trauma is the main cause of morbidity
in children and the most common cause of death
in infants. Its frequency has increased dramati-
cally in recent years (16). In children, falls from
various heights and motor vehicle accidents ac-
count for half the cases, child abuse for one-
quarter (9). In infants, on the other hand, acci-
dental trauma, motor vehicle accidents ex-
cepted, rarely causes intracranial injury, 95%
of serious and life-threatening head injuries be-
ing the result of abuse (30).
Acceleration, deceleration, and deformation
of the skull induce vasomotor reaction, tearing
of intracranial vessels and compression, tearing,
and shearing of the brain. Impact of the brain
against the skull is associated with both in-
creased pressure at the site of the injury and
depression contralaterally. Distortion of the
brain stem may lead to decerebration injuries.
Fractures caused by skull deformation due to
direct impact are linear in 70% of the cases,
rarely depressed. There is no evident correlation
between the existence of a fracture and the prob-
ability and severity of brain lesions. Systematic
skull films in nonsymptomatic head trauma are
therefore most often useless (12).
Two groups of lesions may be observed in
cranial trauma: those related to the impact on
the brain, and those resulting from hemorrhage
and vascular lesions.
7.1.1 Lesions due to the Impact on the Brain
Concussion includes no or only mild anatomic
lesions, and only transient neurologic manifes-
tations.
Hyperemia with secondary edema, called "syn-
drome of malignant edema" (11), is present in
nearly one half of severely injured children (10).
It principally involves the subcortical white mat-
ter and the centrum semiovale. It induces an
increase in intracranial pressure and is present
even in the absence of hemorrhage and other
signs of vascular injury. Marked edema may
lead to uncal herniation with a temporary drop
in blood pressure and compression of the poste-
rior cerebral artery along the edge of the tentor-
ium cerebelli. Usually the edema resolves within
a few days.
Laceration of the brain is usually associated
with penetrating impact (Fig. 7.1) or depressed
skull fractures.
Contusion consists of gross or microscopic hem-
orrhages, the severity of which depends on the
extent of vascular injuries and of associated
tearing of nerve fibers. Very high fibrin-fibrino-
gen degradation product concentrations seem to
reflect severe brain tissue damage (32).
Shearing injuries seem to be secondary to sud-
den rotation of the skull; they include shearing
of the axons and vessels with macro- or micro-
scopic hemorrhages in the corpus callosum, in-
ternal capsule, brain stem, fornices, and anterior
commissure (62).
7.1.2 Lesions Resulting from Hemorrhage
Intracranial bleeding may appear in various lo-
cations and have dramatic consequences in chil-
dren with coagulation disorders (20).
Extradural hematomas are nearly always the
consequence of a tear in the dural veins, particu-
larly in infants, rarely of a meningeal artery or
its branches.
344
Subdural hematoma is due to a tear in the corti-
cal veins as they bridge the subdural space be-
fore draining into the dural sinuses. It results
either from direct trauma or from severe shak-
ing, the latter usually being the case in infants,
whose cervical muscles are weak in contrast
with the size of the head (19). In 80%-85%
of infants, the hematoma is bilateral. In the
acute stage, the liquid is dark red or may form
a solid clot. Within 1 week the hematoma begins
to organize, and a membrane forms and enve-
lops the clot. The collection then begins to act
as a progressive space-occupying lesion. Albu-
min accumulates with subsequent influx of
water. While the subdural hematoma increases
intracranial pressure, there is no evidence that
it interferes with brain development (53); how-
ever, it creates a pocket which tends to refill
even after complete evacuation.
Posterior fossa subdural hematoma asso-
ciated with torn tentorium cere belli veins may
be observed in the newborn and exceptionally
also in the older infant (14, 59).
Subarachnoid bleeding is frequent and generally
first discovered by systematic lumbar puncture,
as it usually has no clinical manifestations. It
may later be complicated by posthemorrhagic
hydrocephalus.
Intracerebral bleeding is unusual, except when
associated with severe contusion, because the
skull in children, and especially in infants is
more elastic than in adults. Contusions are
therefore less serious in infants and small chil-
dren than in adults subjected to comparable
head trauma.
Stroke is a rare complication related to arterial
or venous thrombosis; it may be favored by
blunt trauma to the neck and migrainous diath-
esis (26). The initial trauma usually concerns
the walls of the carotid or vertebral arteries and
consists of intimal damage or dissecting aneu-
rysms with subsequent thrombosis or emboliza-
tion. Stroke may also be due to cerebral edema
with temporal herniation and compression of
the posterior cerebral vessels along the tentor-
ium cerebelli.
Cranial Trauma
7.2 Clinical and Radiologic Aspects of
Head Trauma in Infancy and Childhood
7.2.1 Immediate Post-traumatic Period
Skull fractures are usually linear and asympto-
matic. In early childhood, diastatic fractures are
relatively frequent. Depressed fractures are best
seen on tangential skull films; CT confirms the
diagnosis on large viewing windows and demon-
strates any associated parenchymal lesions.
Basal skull fractures are uncommon; they
are manifested by periorbital and periauricular
ecchymoses and by bleeding of the nasopharynx
and the ear. Serial tomograms and CT best dem-
onstrate fractures of the skull base, particularly
on coronal views (34).
CSF rhinorrhea is proven by the pr~sence
of glucose in the leaking clear fluid. The risk
of intracranial infection is high, and surgical re-
pair should be discussed if the drainage does
not cease rapidly.
Pneumocele is a rare complication of basal
fractures and involves a high risk of infection.
Tension pneumocephalus, because of the rapid
increase in intracranial pressure, may represent
a neurosurgical emergency.
Concussion is defined by immediate loss of con-
sciousness of variable duration, not related to
brain damage. Retrograde amnesia is frequent,
including events that preceded the trauma, and
may be followed by a transient Korsakoff syn-
drome with confabulation before complete re-
covery. Headache lasting several days or even
weeks is usual. The immediate appearance of
unconsciousness owing to concussion is of ma-
jor importance, since any delay suggests a more
severe lesion.
CT is normal; however, this does not by it-
self permit the diagnosis of concussion, since
CT can also be normal in severe lesions such
as in those of the brain stem.
Trauma-triggered migraine: In a large number
of children, relatively mild trauma induces, even
in the absence of signs of concussion and within
1-10 min, a throbbing headache with nausea
and vomiting that may last several hours. In
Immediate Post-traumatic Period
young children and infants, this condition may
only develop as a result of trauma, but in teen-
agers, spontaneous attacks may also occur (6).
Transient post-traumatic hemisyndrome, be-
havioral disturbances, vomiting, cortical blind-
ness, brain stem signs (26, 56) and even seizures
(40) have been reported in children, and are
more likely to occur in association with mi-
graine in those with familial antecedents. Re-
peat seizures during the first day with normal
interictal consciousness may also be a purely
functional phenomenon with favorable outcome
(24).
Diffuse cerebral swelling is observed in nearly
one half of severely injured children. This term
is only used if the child is comatose for at least
6 h (8, 10).
CT shows areas of increased density which
seem to represent increased cerebral blood vol-
ume (11). Slit-ventricles, obliterated perimesen-
cephalic cisterns and flattened cortical sulci are
observed without mass lesions or hemorrhagic
contusion. Seventy-five percent of the victims
have a satisfactory outcome (8) with normaliza-
tion of CT findings.
Stroke is a rare complication. The causative
trauma is variable, but vehicle accidents and
falls with a pencil or similar object in the mouth
are relatively common. The stroke is usually
preceded by a latent interval of 6-12 h during
which the child is asymptomatic or displays only
symptoms of cerebral concussion or contusion.
Stroke is occasionally immediate or delayed for
1-2 weeks (25, 52). There is no characteristic
clinical presentation, and stroke may be sudden
or progressive, evolving over hours or days.
Mutism was observed in 3% of trauma pa-
tients in a prospective study (37): the children
remained mute for a period of varying length
despite recovery of both consciousness and the
ability to communicate through nonverbal
channels.
CT demonstrated areas of edematous den-
sity which were either located in the putaminal-
capsular region or more diffuse in half the cases,
but revealed no abnormality in the other half.
The group with detectable lesions on CT gener-
ally recovered consciousness and subsequently
345
regained speech more rapidly than the second
group.
Contusion induces prolonged unconsciousness,
variously associated with seizures, focal neu-
rologic deficit, and increased intracranial pres-
sure, according to the topography and extension
of the lesions.
In most cases, possibly only after a delay
of a few hours, CT shows more or less extensive
areas of edema and hemorrhage the two main
components of the lesions:
- Edema appears as a poorly limited area of
diminished density in part or all of the cere-
bral hemispheres (Figs. 7.3, 7.4). When dif-
fuse, the edema may be overlooked, except
when it predominates on one side with dis-
placement of the midline.
- Hemorrhages may be of various intensity: ,
Subpial ecchymoses appear as dense gyri form
areas in the cortical regions, underlined by
an adjacent white matter of edematous den-
sity.
Corticosubcortical hemorrhages can be seen
only during the first 2 days; later the hemor-
rhagic areas progressively vanish, followed by
edema with marked mass effect. Contrast en-
hancement may be observed in the edematous
areas.
Cerebral attrition is characterized by diffuse
intracerebral hemorrhages surrounded by
edema (Fig. 7.2) that progressively worsens
during the first week and then resolves, with
a persisting porencephalic cavity.
One to 2 weeks after the trauma the areas
of edematous and hemorrhagic density progres-
sively resolve and the mass effect vanishes, but
focal or global shrinkage and atrophy of the
brain produce enlargement of the lateral ventri-
cles and of the pericerebral subarachnoid spaces
(Figs. 7.4, 7.5).
One of the main problems in the initial stage
in these patients is to avoid complications re-
lated to increased intracranial pressure. In a se-
ries of pediatric and adult patients, it was shown
that patients with normal CT findings had a
16% risk of developing increased intracranial
pressure; the risk dropped to 4% when there
was normal posture and normal blood pressure
346
(over 90 mmHg) at the outset. Multimodality
evoked potentials were also an indicator of good
prognosis (41). Conversely, the risk of increased
intracranial pressure was over 50% when CT
was abnormal. The usefulness of monitoring in-
tracranial pressure remains uncertain: in adults,
selective indications and aggressive treatment
seem to improve outcome (51), but conflicting
results have been reported in children (8, 31).
The outcome ranges from complete recovery
to death. Once improvement has started - it
may be slow and last over a year - there is
no tendency to secondary worsening, except in
cases with complications such as delayed intra-
cerebral bleeding or severe epilepsy. In these
cases a new CT examination is indicated.
Shearing injuries are rare and characterized by
immediate loss of consciousness with decere-
brate posture but normal intracranial pressure.
CT demonstrates no intracranial hematoma
but reveals bilateral cerebral swelling with ven-
tricular and cisternal compression hemorrhage
in the corpus callosum and the subarachnoid
space, less frequently in the hemispheric white
matter or in the region around the third ventri-
cle. Within 2-3 weeks, atrophic ventricular dila-
tation and areas of edematous density may be
seen in the cerebral hemispheres (62).
Brain stem lesions may either be a part of wider
shearing lesions or result from direct laceration
between the clivus and the tentorium cerebelli.
Decorticate posture and cranial nerve pal-
sies, including loss of vestibular reflex, are the
main clinical signs. Intracranial pressure re-
mains normal.
CT is usually normal, but occasionally dem-
onstrates dense or edematous areas within the
brain stem. Contrast enhancement within the
brain stem has been reported by only one author
(22).
Cerebral herniation concerns mainly the falx cer-
ebri and the tentorium. In the first case there
is lateral displacement of the third ventricle and
downward and lateral displacement of the af-
fected lateral ventricle, which may bulge under
the falx. Tentorial herniation first appears as
an obstruction in the homolateral suprasellar
Cranial Trauma
cisterns. Later, the brain stem is displaced later-
ally and rotated, the fourth ventricle is com-
pressed and displaced contralaterally, and the
pontocerebellar cisterns may appear enlarged
on the side of the herniation.
Hydrocephalus related to compression of
the aqueduct predominates in the contralateral
ventricle. Ischemia in the territory of the poste-
rior cerebral artery can result from its compres-
sion along the edge of the tentorium.
Extradural hematoma is rare in children and
even more so in infants (41). The classical se-
quence of initial loss of consciousness, some-
times followed by recovery, with subsequent ra-
pid deterioration and appearance of focal neu-
rologic signs is rare in infancy and childhood.
An asymptomatic interval after the trauma (the
younger the child, the longer the interval) and
subsequent progressive loss of consciousness
and appearance of neurologic signs are the usual
findings in pediatric patients. The neurologic
signs include unequal pupils, hemiparesis, papil-
ledema, IIIrd cranial nerve palsy, and retinal
hemorrhage; misleading signs such as chorea
have been reported (1). In over half the cases
there is no loss of consciousness. In infants signs
related to acute anemia, including shock, are
particularly frequent, even in the absence of
frank neurologic signs (41). Delayed postnatal
extradural hematoma may occasionally result
from vitamin K deficiency (15).
CT typically demonstrates a homogeneous,
convex area, usually of hematoma density, lo-
cated along the inner table of the skull, most
frequently in the temporal or temporoparietal
region (Fig. 7.6). The density may occasionally
be close to that of the surrounding brain; in
these cases, the precise limits of the dura mater
can usually be seen after injection of contrast
material. Extravasation of contrast material is
an exceptional CT finding (45). Extradural he-
matomas generally have a larger size in infants
and in frontal locations. The homolateral ven-
tricle is compressed, midline shift is frequently
marked, and temporal herniation may be ob-
served. Associated parenchymal lesions, though
rare, may be seen on the homo- or contralateral
side.
Immediate Post-traumatic Period
In some 4% of cases, the extradural hema-
toma is located in the posterior fossa (61); the
bleeding usually arises from injury to a lateral
sinus or to a tentorial vein, resulting from a
severe fall on the occiput. Some cases have been
reported without skull fracture. Persistent im-
pairment of consciousness, headache, vomiting,
and neck stiffness are the usual symptoms; signs
of posterior fossa involvement are rare (4). On
CT the hematoma usually involves both the su-
pra- and infratentorial compartments.
Acute subdural hematoma may have a wide vari-
ety of clinical expressions and consequences.
1) It may induce symptoms related to acute
hemorrhage and, particularly, transient neu-
rologic signs. In a series of 26 cases (3), most
patients were hospitalized for generalized tonic
convulsions which developed after minor
trauma. All patients had retinal hemorrhages,
but most of them had neither disturbances of
consciousness nor motor deficit.
CT demonstrated over the cerebral hemi-
spheres a collection ofliquid of variable density:
high, hemorrhagic density in fulminating cases,
low density, approaching CSF density, in less
acute cases. The delay between trauma and CT
and the volume of the hemorrhage probably
both influence the density of the collection
(Figs. 7.5, 7.7).
Evolution was favorable in most cases.
Apart for retinal hemorrhages (Fig. 7.3), vomit-
ing and irritability, the relation between the clin-
ical symptoms, particularly the seizures, and the
subdural hematoma remains uncertain in most
cases, since similar manifestations may result
from pure cerebral concussion.
2) In other instances, acute subdural hema-
toma has more severe consequences, resulting
in signs of increased intracranial pressure, sei-
zures, disturbances of consciousness, or focal
neurologic defects.
On CT the hematoma appears as a collection
of hemorrhagic density extending along the in-
ner table of the vault. Its limits are irregular,
less clearly defined than in extradural hemato-
mas. The subdural hematoma may outline the
surface of the cerebral hemisphere, invaginating
into the sylvian fissure. Hematomas located in
347
the interhemispheric fissure are observed in one-
third of the cases. The density of the hematoma
may approach that of normal or edematous ce-
rebral tissue, particularly after recurrent bleed-
ing or in anemic patients (55). Injection of con-
trast material is useful in these cases, since it
shows the limits of the brain. Interhemispheric
hematomas seem to be characteristic of abused
children (48, 59). Hematomas at the level of the
tentorium cerebelli are best seen on frontal
views. Frontal and sylvian subdural hematomas
are usually small and convex, thus simulating
extradural hematomas. Associated parenchymal
lesions are frequent and are the reason for the
contrast between the small size of the hematoma
and the importance of the midline shift. They
consist of brain swelling, petechial hemor-
rhages, and compression of the homolateral
ventricle. Dilatation of the contralateral ventri-
cle is frequent, resulting from temporal hernia-
tion.
Contrast enhancement may opacify a thick
band outlining the surface of the cerebral hemi-
sphere, corresponding to the cortical vessels and
possibly to subdural membranes. Delayed opa-
cification of the hematoma, 4-6 h after injection
of contrast material, is observed in over half
the cases.
Neonatal supratentorial subdural hemato-
mas do not differ from those observed in older
patients. The clinical symptoms may be discrete
or even absent, and IIIrd cranial nerve palsy,
manifested by fixed, symmetrical pupils, is sec-
ondary to temporal herniation (17).
In the newborn, posterior fossa subdural he-
matoma produces signs of increased intracranial
pressure, including bulging of the fontanelle,
splitting of sutures, vomiting, and lethargy. Cra-
nial nerve palsies are exceptional. Difficult de-
livery, including use of forceps in over half the
cases and breech presentation in one-fourth of
the cases, is the principal etiology (14, 29).
Intracerebellar hematomas have been reported
only exceptionally in children (47). Immediate
coma, progressive deterioration, and bilateral
VIth cranial nerve palsy are the usual nonspe-
cific clinical manifestations.
348
CT shows a dense area in the cerebellar ver-
mis or in one of the cerebellar hemispheres. Dis-
tortion of the fourth ventricle and obliteration
of the basal cisterns are inconstant, but when
present imply a poor prognosis (58).
In contrast to spontaneous cerebellar hema-
tomas, there is not always a strict correlation
between size and outcome, probably because of
possible associated brain stem lesions. Late de-
velopment of hydrocephalus is not unusual.
Child abuse syndrome: Particular lesions have
been reported on CT examination of battered
infants (3, 49) which, associated with the discov-
ery of generally multiple traumatic bone lesions
of various ages, contribute to suggest the diag-
nosis of abuse.
In two series, acute interhemispheric hema-
tomas along the falx cerebri were observed in
58% and 42% of battered children (63, 22), con-
trasting with the relatively low frequency of
acute convexity subdural hematomas. The inter-
hemispheric hematomas were located most of-
ten in the parieto-occipital region. Only rarely
did they extend to the convexity, and were then
smaller (Figs. 7.3, 7.4). They seem to be second-
ary to violent shaking of the head (43). Uni-
or bilateral areas of parenchymal edema and
brain swelling (62%-67%) are usually asso-
ciated with ventricular compression. They prob-
ably result from cerebral contusion (Fig. 7.3).
Intracerebral hemorrhages are less frequent
(12%-18%).
Progressive and more or less diffuse brain
atrophy with ventricular dilatation and enlarge-
ment of the sulci, sometimes accompanied by
porencephaly are frequent findings on repeat
CT examinations in the following weeks
(Figs. 7.4, 7.5).
7.2.2 Delayed Complications
The major concern of the weeks and months
following head trauma is the appearance of
signs of increased intracranial pressure that may
result from various types of complications.
Infantile chronic subdural hematoma most often
appears between 2 and 6 months of age. AI-
Cranial Trauma
though trauma is confessed by the parents in
no more than half the cases, there is no differ-
ence between the admitted traumatic and the
so-called idiopathic cases as to sex, age, and
clinical and radiologic manifestations. This sug-
gests that parental abuse is responsible for a
great proportion of these injuries. Anamnesis
may reveal early post-traumatic symptoms such
as convulsions, vomiting, disturbances of con-
sciousness, or fever, which can result from both
acute subdural hematoma and brain contusion.
On examination, the head is enlarged and
the fontanelle bulges slightly. Focal neurologic
signs such as hemiparesis or facial palsy are
present in 15%-20% of the cases. Retinal hem-
orrhages are frequent, and CSF xanthochromia
or hemorrhage is present in two-thirds of the
cases (2).
CT shows an enlargement of the peri cerebral
spaces, whose density is initially increased and
heterogeneous, later decreased. The collection
may be overlooked during the intermediate
stage when the hematoma is of the same density
as the brain (18), particularly from the 2nd to
the 6th week following the trauma, after reb-
leeding into a chronic subdural collection, or,
more rarely, when the patient has a low hemo-
globin value (55).
Several features are helpful in the evaluation
of possible isodense subdural hematomas (35):
visualization of the cortical sulci extending to
the inner table of the skull rules out hematoma
and medial displacement of the cortical sulci or
cortical veins and small compressed ventricles
are suggestive of hematoma. Elongation and de-
formation of the lateral ventricles so that they
resemble the ears of a rabbit is an indirect sign
of bilateral subdural hematomas with the same
density as the brain (39). In such cases angiogra-
phy may be indicated to confirm the diagnosis.
Parenchymal lesions consisting of cortical atro-
phy and/or ventricular dilatation are often diffi-
cult to distinguish from persisting subdural he-
matoma, and subdural tap may be needed in
these cases. Focal or multi focal edematous areas
may evolve to porencephalies and even multi-
cystic encephalomalacia in rare cases (3).
Long Term Complications and Sequelae
Childhood subdural hematoma is quite rare (48).
The causal injury is more likely to be significant
and remembered than in adulthood. The symp-
toms are the same as in adulthood: headache,
gradual decline in alertness, and, more rarely,
focal neurologic signs. Papilledema is present
in more than half the cases. CT is diagnostic.
Subdural hygroma is common in children and
adolescents. It probably results from an arach-
noid tear, with leak of CSF into the subdural
space. Papilledema and headache are the most
prominent signs; focal neurologic signs are gen-
erally absent (6).
CT shows a pericerebral collection, the den-
sity of which is close to that of CSF.
Subdural tap reveals a clear fluid with a
composition similar to that of CSF.
Post-traumatic pseudo tumor cerebri is mani-
fested by headache and papilledema, but CT
is normal (6). Occlusion of major venous sinuses
is supposed to be the mechanism of this lesion,
and computed angiography may be helpful for
diagnosis.
Post-traumatic hydrocephalus is usually second-
ary to posterior fossa and ventricular hemor-
rhage. Its manifestations - headache, vomiting,
and unsteady gait - usually appear 1-3 months
after the accident (70%), rarely later. Examina-
tion reveals cerebellar and pyramidal signs.
CT reveals dilatation of the third and lateral
ventricles, and sometimes of the fourth ventri-
cle, according to the location of the obstruction.
It may be difficult to distinguish post-trau-
matic hydrocephalus from previously balanced
congenital hydrocephalus; usually the head was
already large in the latter.
Distinction between post-traumatic hydro-
cephalus and atrophy may be difficult; in some
cases both may occur in association. Progressive
increase of ventricular size on repeat CT scans
suggests hydrocephalus. Ventricular asymmetry
is more likely a sign of focal atrophy. Massive
and persisting ventricular reflux after intrathe-
cal injection of metrizamide suggests evolutive
hydrocephalus. Assessment of the indication for
ventricular shunting generally requires measure-
ment of intracranial pressure.
349
Delayed intracerebral hematoma is a rare condi-
tion in children, unlike in adults. Headache, fo-
cal neurologic signs and/or epilepsy of progres-
sive appearance are the revealing manifesta-
tions. CT is diagnostic.
Ataxia and hearing loss secondary to perilym-
phatic fistula is a rare complication (28) with
normal CT findings. Tomograms of the petrous
bone are diagnostic.
7.2.3 Long Term Complications and Sequelae
Growing skull fracture (synonym: leptomen-
ingeal cyst) mainly appears after forceps deliv-
ery or head trauma during the first year of life.
In 90% of the cases, the trauma occurs before
3 years of age (36). It may be mild, but is usuaUy
violent and located in the parietal region (37).
The interval between the trauma and the discov-
ery of the growing skull fracture may range
from a few weeks to several years. Underlying
the skull defect, the dura mater is torn (23) and
there is a porencephalic cyst resulting from di-
rect traumatic damage to the brain. The cyst
slowly expands, compressing the cerebral paren-
chyma, invaginating between the edges of frac-
ture, and progressively eroding the skull. In
most cases the porencephalic cyst communicates
directly with a lateral ventricle, and transmis-
sion of CSF pulsations through the dural defect
is thought to playa part in the progressive ero-
sion of the borders of the fracture (57).
Neurologic manifestations are frequent and
include seizures, focal motor or visual defects,
and pyramidal signs. These manifestations may
be present immediately after the trauma or ap-
pear progressively in the months following the
accident (51), and may worsen during growth
of the skull fracture. In rare cases, the leptomen-
ingeal cyst is discovered fortuitously when pal-
pation of the skull reveals a pulsatile mass sur-
rounded by the margins of the fracture.
Skull films demonstrate the bone defect, and
serial examinations reveal its progressive in-
crease in size (Fig. 7.8).
CT (46) shows the cranial lacuna and the
underlying porencephalic cyst, the communica-
350
tion of which with the lateral ventricle is often
difficult to prove (Fig. 7.8d, e).
Motor deficits, mental retardation, and epilepsy:
Brain contusion and infantile subdural hema-
toma are the main causes of mental and motor
sequelae. In subdural hematoma, the sequelae
mainly follow on the associated cerebral contu-
sion. There is evident correlation between the
duration of the initial coma and the persistence
of definitive neurologic signs, mental retarda-
tion, and epilepsy (2).
Isolated cognitive dysfunction, learning dis-
ability, and behavioral disturbances have an in-
creased incidence only in patients with an initial
coma exceeding 1 week in duration (13).
The risk of epilepsy is increased in two
groups of patients: those who suffer evident fo-
cal cerebral lesions, expressed by focal neu-
rologic signs, depressed skull fracture, or focal
cerebral contusion, and those who have seizures
both in the initial stage and for a period of more
than 24 h (33, 41).
Among the various motor sequelae, voli-
tional dyskinesia is typical after trauma with
signs of brain stem involvement and character-
ized by the delayed appearance of unilateral in-
tention tremor, mainly when the patient at-
tempts to maintain a posture. This condition
seems to be related to unilateral lesion in the
dentatorubrothalamic pathway (5).
Occasional cases of optic atrophy have been
reported after subdural hematoma (61).
CT evaluation of such sequelae may disclose
various types of abnormalities:
Ventricular dilatation is particularly sugges-
tive of brain atrophy when it is asymmetrical
or limited to part of a ventricle.
Enlargement of the sulci is due to brain atro-
phy. It may be focal or diffuse and is generally
associated with ventricular dilatation. In
some cases it may be difficult to distinguish
from subdural hematoma or "benign external
hydrocephalus" .
Demyelination appears as ill-defined clefts of
edematous density within the white matter,
particularly in the temporal and orbitofrontal
regions (44).
Cranial Trauma
Porencephalies present as well-delimited ar-
eas of CSF density, frequently communicat-
ing with the lateral ventricles.
- Chronic subdural collections are frequently
associated with marked thickening of the
membranes.
Post-traumatic headache, though much less fre-
quent in children than in adults, may in some
cases pose difficult diagnostic and management
problems (6, 54). Emotional and tension head-
aches with feeling of pressure and tightness in
a cap or band configuration are rare. Tender-
ness, aching on palpation at the site of the injury
probably results from injury to the nerve end-
ings and fibrosis; it generally disappears with
time. Throbbing headache in attacks lasting sev-
eral hours is probably a migrainous phenome-
non, and is more frequent in children than the
two previously mentioned conditions.
In all these cases CT remains normal.
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dural hematoma. J Neurosurg 61: 273-280
4. Arkins TJ, McLennan JE, Winston KR et al. (1977)
Acute posterior fossa epidural hematomas in chil-
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kinesies volitionnelles d'attitude, sequelles de trau-
matisms graves du tronc cerebral chez l'enfant (a
propos de 10 observations). Rev Neurol
114:150-157
6. Barlow CF (1984) Headaches and migraine in child-
hood. Spastics International Publications, London
pp 181-187
7. Bean CS, Ladisch S (1977) Chorea associated with
subdural hematoma in a child with leukemia. J Pe-
diatr 90: 255-256
8. Berger MS, Pitts CH, Lovely M et al. (1985) Out-
come from severe head injury in children and adoles-
cents. J N eurosurg 62: 194-199
9. Billmire ME, Myers PA (1985) Serious head injury
in infants: accident or abuse? Pediatrics 75: 340-342
10. Bruce DA, Gennarolei T A, Langfitt TW (1978) Re-
suscitation from coma due to head injury. Crit Care
Med 6:254-269
Long Term Complications and Sequelae
11. Bruce DA, Alavi A, Bilaniuk L et al. (1981) Diffuse
cerebral swelling following head injuries in children:
the syndrome of "malignant brain edema". J Neu-
rosurg 54: 170-178
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servations on their incidence and causes with an in-
quiry into the value of routine skull X-Rays. Arch
Dis Child 35: 205-215
13. Chadwick 0, Rutter M, Brown G et al. (1981) A
prospective study of children with head injuries:
cognitive sequelae. Psychol Med 11 :49-61
14. Chase WH (1930) An anatomical study of subdural
hemorrhage associated with tentorial splitting in the
newborn. Surg Gynecol Obstet 51: 31-41
15. Cooper NA, Lynch MA (1979) Delayed haemorr-
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16. Craft AW, Shaw DA, Cartlidge NE (1972) Head
injuries in children. Br Med J 4: 200-203
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18. Dublin AB, Rennick JM, Sivlangam S et al. (1976)
Failure of computed tomography to demonstrate a
chronic subdural hematoma. Surg NeuroI6:23-24
19. Ferrey P, Tufts E, Isom JB (1974) On shaking and
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stract) 2: 14
20. Findler G, Aldor A, Nadani M et al. (1982) Trau-
matic intracranial hemorrhages in children with co-
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21. French BN, Dublin AB (1977) The value of compu-
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22. Gardeur D, Metzger J (1982) Pathologie trauma-
tique cranio-cerebrale. Ed Marketing, Paris, pp 192-
193
23. Goldstein FP (1970) Varieties of growing skull frac-
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24. Grand W (1974) The significance of post-traumatic
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25. Gurdjian ES, Hardy WG, Linder DW et al. (1963)
Closed cervical cranial trauma associated with in-
volvement of the carotid and cervical arteries. J
Neurosurg 20:418-427
26. Haas DL, Pineda GS, Lourie H (1975) Juvenile head
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graine. Arch Neurol 32: 727-730
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(1971) The significance of skull fractures in children.
Radiology 101: 151-155
28. Healy GB, Friedman JM, Ditroia J (1978) Ataxia
and hearing loss secondary to perilymphatic fistula.
Pediatrics 61 :238-241
29. Hernansanz J, Munoz F, Rodriguez D et al. (1984)
Subdural hematomas of the posterior fossa in nor-
mal weight newborns. J Neurosurg 61: 972-974
30. Hobbs CJ (1984) Skull fractures and the diagnosis
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of abuse. Arch Dis Child 59: 246--252
31. Humphreys RP, Jaimovich R, Hendrick EB et al.
(1983) Severe head injuries in children. In: Humph-
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32. Jaap van der Sande J, Veltkamp JJ, Boekhout-Mus-
sert RJ et al. (1981) Hemostasis and computerized
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33. Jennett B (1975) Epilepsy after non-missile head in-
jury. Heineman, London
34. Kaiser MC, Petterson H, Harwood-Nash DC et al.
(1981) CT for trauma of the base of the skull and
spine in children. Neuroradiology 22:27-31
35. Kim KS, Hemmati M, Weinberg PE (1978) Compu-
terized tomography in isodense subdural hematoma.
Radiology 128:71-74
36. Lende RA, Erickson TC (1961) Growing skull frac-
ture in childhood. J Neurosurg 18:479-489
37. Levin HS, Madison CF, Bailey CB et al. (1983)
Mutism after closed head injury. Arch Neurol
40:601-606
38. Lye RH, Occleshaw JV, Dutton J (1981) Growing
fracture of the skull and the role of computerized
tomography. J Neurosurg 55:470-472
39. Mareu M, Becker H (1977) CT of bilateral isodense
chronic subdural hematoma. Neuroradiology
14:81-83
40. Mireur 0, Roger J (1982) Problemes medico-legaux
poses par les epilepsies post-traumatiques. Bull Lega
Ital Epil 39: 23-27
41. Motte J, Dulac 0, Rousseaux P et al. (1985) L'he-
matome extra-dural chez l'enfant de moins d'un an.
Arch Fr Pediatr 42:301-303
42. Narayan RK, Kishore PR, Becker DP et al. (1982)
Intracranial pressure: to monitor or not to monitor.
J Neurosurg 56: 650-659
43. Ommaya AK, Yarnell P (1969) Subdural hematoma
after whiplash injury. Lancet 2:237-239
44. Ordia FJ, Strand R, Gilles F et al. (1981) CT of
contusional clefts in the white matter in infants. J
Neurosurg 54: 696--698
45. Palmieri A (1981) Extravasation of contrast-en-
hanced blood in an epidural hematoma. Neurora-
diology 21: 163-164
46. Pascaud JL, Ronayette D, Bokor J et al. (1984)
Kyste leptomeninge et osteolyse expansive. Ann Ra-
diol 27: 659-663
47. Pozzati E, Grossi L, Padovani R (1982) Traumatic
intracerebellar hematomas. J Neurosurg 56: 691-694
48. Rahme ES, Green D (1961) Chronic subdural hema-
toma in adolescence and early childhood. JAM A
176 :424-426
49. Roussey M, LeFran<;ois MC, LeMarec B et al.
(1982) La tomodensitomt':trie cranienne chez les en-
fants maltraites. Ann Radiol 25: 237-243
50. Sato 0, Tsuygane R, Kagewama N (1975) Growing
skull fracture in childhood. Child's Brain 1: 148-157
51. Saul TG, Drucker TB (1982) Effects of intracranial
352
pressure monitoring and agressive treatment on
mortality in severe head injury. 1 Neurosurg
56:498-503
52. Schneider RC, Gosch HH, Taren lA et al. (1972)
Blood vessel trauma following head and ncck inju-
ries. Clin Neurosurg 19:314--354
53. Shulman K, Ransohoff 1 (1961) Subdural hema-
toma in children: the fate of children with retained
membranes. 1 Neurosurg 18:175-181
54. Simons Dl, WolffHG (1946) Studies on headache:
mechanism of chronic post-traumatic headaches.
Psychos om Med 8: 227-242
55. Smith WP, Batnitzky S, Rengachary SS (1981)
Acute isodense subdural hematomas: a problem in
anemic patients. Am 1 Neuroradiol 2: 37--40
56. Snoek lW, Minderhound 1M, Wilmink 11 (1984)
Delayed deterioration following mild head injury in
children. Brain 107: 15-36
57. Taveras 1, Ransohoff 1 (1953) Leptomeningeal cyst
Fig. 7.1 a, b. A 6-year-old boy; ballistic head injury re-
sulting in definitive hemiplegia. CT: frontal-occipital
trajectory of the projectile with persisting osseous frag-
ments, extensive cerebral lesions
Fig. 7.2 a, b. A 12-year-old boy with frontal trauma fol-
lowed by disturbances of consciousness, hemiparesis and
seizures. CT: left frontal cerebral attrition with hemor-
rhagic foci surrounded by an area of edematous density,
compression of the left frontal horn
Cranial Trauma
of the brain following trauma with erosion of the
skull. 1 Neurosurg 10:233-242
58. Tsai Fy, Teal IS, Itabashi HH et al. (1980) Com-
puted tomography of posterior fossa trauma. 1
Comput Assist Tomogr 4:291-305
59. Vielvoye Gl, Peters AC, VanDulken H (1982) Acute
infratentorial traumatic subdural hematoma asso-
ciated with a torn tentorium cere belli in a one year
old boy. Neuroradiology 22:259-261
60. Walsh FB, Hoyt WF (1969) Clinical neuroophthal-
mology. Williams and Wilkins, Baltimore
61. Wright RL (1966) Traumatic hematomas of the pos-
terior cranial fossa. 1 Neurosurg 25: 402-409
62. Zimmermann RA, Bilaniuk LT, Generalli T (1978)
Computerized tomography of shearing injuries of
the cerebral white matter. Radiology 127: 393-396
63. Zimmermann RA, Bilaniuk LT, Bruce D et al.
(1979) Computed tomography of cranio-cerebral in-
jury in the abused child. Radiology 130: 687-690
Fig. 7.3a--c. A 2-month-old girl with intractable seizures,
coma, hemorrhagic CSF, and numerous fractures sug-
gesting child abuse. CT: hemorrhage within the left eye-
ball (a), contusion with edematous appearance of the
left cerebral hemisphere, subdural hemorrhage along the
falx (b) and around the convexity of the left frontal
lobe (c)
Clinical and Radiologic Aspects of Head Trauma in Infancy and Childhood 353

Fig. 7.4 a-i. A 4-month-old boy with disturbances of
consciousness, seizures. CSF is hemorrhagic and fundos-
copic examination reveals retinal hemorrhages. Skeletal
radiographs are normal. CT: contusion of the left cere-
bral hemisphere, which presents an edematous density
and a small subdural hematoma along the falx (a-c)
suggesting child abuse. Follow-up CT scans at the age
of 6 months (d-f) and 1 year (g-i) reveal extensive de-
struction of the left cerebral hemisphere with progressive
cranial asymmetry

Fig. 7.5a-c. A 6-month-old girl with traumatic encepha- a slightly higher density than the intraventricular CSF;
lopathy due to child abuse. CT 4 weeks after the acute porencephalic cysts in the right frontal and the parieto-
stage reveals persisting subdural collections that have occipital regions
354 Cranial Trauma

Fig. 7.6a-d. A 6-month-old girl, hospitalized for head

trauma with fracture of the skull in the right temporo-
frontal region; 6 h after admission she presents troubles
of consciousness and rapidly progressive left hemipare-
sis. CT: large extradural hematoma covering the right
cerebral hemisphere, herniation of this hemisphere under
the falx
Fig. 7.7a-f. A 4-month-old boy with seizures, vomiting,
and disturbances of consciousness. CSF is hemorrhagic.
Subdural tap reveals about 20 ml hemorrhagic fluid on
each side. CT 1 week after onset (a, b): relatively small
bilateral subdural collections; absence of cerebral le-
sions. From 4 to 6 months of age the boy shows exces-
sive increase of head circumference but no signs of in-
creased intracranial pressure. Follow-up CT at the age
of 6 months (c, d): progression of the volume of the
subdural collections. Progressive stabilization of growth
of head circumference between the ages of 6 and
12 months. A last CT scan at the age of 1 year shows
diminution of the thickness of the subdural collection,
formation of membranes along the inner table of the
vault (e, f)
Clinical and Radiologic Aspects of Head Trauma in Infancy and Childhood 355

Fig.7.8a-k. A 6-month-old boy who fell of a height

of 4 m; disturbances of consciousness, left hemiparesis,
and seizures. Skull film (i): right parietal fracture. CT
(a-d): skull fracture (b, d) and adjacent cerebral attrition
with hemorrhagic foci surrounded by edema (a, c). At
the age of 7 months, palpation reveals enlargement of
the space between the edges of the fracture, as visible
on a second skull film (j). Repeat skull film at the age
of 12 months shows progression of the evolutive skull
fracture (k) and CT reveals underlying porencephalic
cyst (e, f); communication with the lateral ventricle is
best seen on frontal sections (g, h; note inversion of
right and left)
8 Miscellaneous
8.1 Osseous Dysplasias
8.1.1 Craniosynostosis
Craniosynostosis is due to premature fusion of
the cranial sutures, or in some conditions, such
as Apert's syndrome, to failure of the blastema
to form separate bones (2).
When premature fusion occurs, normal
growth of the skull in a direction perpendicular
to the suture concerned is inhibited. This ex-
plains the abnormal shape of the skull:
- Fusion of the coronal sutures leads to brachy-
cephaly
- Fusion of the sagittal suture leads to scapho-
cephaly
- Fusion of the metopic suture leads to trigono-
cephaly (Fig. 8.1)
- Fusion of all the sutures leads to oxycephaly
- Unilateral fusion of a coronal or lambdoid
suture leads to plagiocephaly (Fig. 8.2).
This approximative anatomic classification
does not take in account possible synostosis of
the various sutures and synchondroses of the
cranial base. Numerous syndromes with cranio-
synostosis are associated with other skeletal
malformations with or without synostosis.
Isolated Craniosynostosis
Most cases of isolated craniosynostosis are spo-
radic. Familial instances are relatively uncom-
mon; they may be autosomal dominant or au-
tosomal recessive, though dominant inheritance
is considerably more frequent (2). The overall
incidence of craniosynostosis is estimated at be-
tween 1 in 4500 and 1 in 30000 births (4). The
sagittal suture is most frequently affected
(40%-70%) and the sex ratio is generally in fa-
vor of males.
Besides esthetic prejudice due to the defor-
mation of the skull, the vault volume may be
reduced, leading to a chronic increase in intra-
cranial pressure, especially if several sutures are
fused (1,8). Multiple neurologic symptoms have
been described in association with craniosynos-
tosis, such as psychomotor retardation, signs of
chronic increased intracranial pressure, seizures,
divergent strabismus, optic atrophy, anosmia,
and bilateral pyramidal tract signs (1, 7). The
precise frequency of these symptoms in isolated
craniosynostosis remains unknown.
Plain skull films are diagnostic in demon-
strating the fusion and frequently the densifica-
tion of the suture(s) concerned. CT helps to de-
tect associated intracranial lesions such as ven-
tricular compression or enlargement (Fig. 8.3f)
and shows, in views with window width and
height selected for the study of osseous struc-
tures, the densification of the fused sutures
(Figs. 8.1 c, 8.2c, 8.3e, 8.4e, f) and the deforma-
tion of the skull, with the possibility of direct
mensuration with a view to surgical treatment.
Syndromes with Craniosynostosis
About 40 syndromes have been reported where
craniosynostosis may occur as an isolated ab-
normality or as a part of a broader pattern of
abnormalities (2). Most of these syndromes are
rare and we will mention only the most fre-
quent:
a) Apert's syndrome is characterized by dif-
fuse craniosynostosis with diminution of the
length of the cranial base, shallow orbits, hyper-
telorism (Fig. 8.3), midface deficiency, and syn-
dactyly of hands and feet with minimal involve-
ment of digits 2-4. Mental deficiency is fre-
quent. Inheritance is autosomal dominant (2,
5).
b) Carpenter's syndrome includes complex
craniosynostosis of the base and the vault, re-
sulting in the same craniofacial deformation as
in Apert's syndrome. It includes syndactyly, dis-
358
placement of the patellae, genu valgum, congen-
ital heart defects, short stature, and nearly al-
ways mental deficiency. Inheritance is autoso-
mal recessive (2, 7)
c) Crouzon's disease is characterized by
complex craniosynostosis with shallow orbits
and proptosis, hypertelorism, midface defi-
ciency (Fig. 8.4), parrot-beak nose, and pro-
gnathism. Other skeletal abnormalities, such as
the Klippel-Feil anomaly (3), may be observed.
Intellect is generally normal. Visual impairment
secondary either to increased intracranial pres-
sure or to constriction of the optic canal is fre-
quent (7). Inheritance is autosomal dominant.
d) Cloverleaf skull is a rare condition in
which complex craniosynostosis is associated
with extensive hydrocephalus in the pre- and
neonatal period, giving the skull a trilobated
configuration on frontal views; it may occur in
various syndromes with craniosynostosis (2)
and has been observed in our series in cases
of Crouzon's disease (Fig. 8.4) and Apert's syn-
drome.
The most frequent indication for treatment
of congenital craniosynostosis is the esthetic
prejudice. In cases of craniosynostosis of nu-
merous sutures and increased intracranial pres-
sure, decompressive operations may be dis-
cussed. Visual impairment owing to constriction
of the optic canals, as observed in Crouzon's
disease, may require surgical decompression.
Miscellaneous
Secondary craniosynostosis may be ob-
served after prolonged diminution of intracrani-
al pressure, as in infants with marked cerebral
atrophy or after shunt operation for hydroce-
phalus (6).
References
1. Anderson H (1977) Craniosynostosis. In: Vinken PJ,
Bruyn GW, (eds) Handbook of clinical neurology,
vol 32. North Holland, Amsterdam, pp 219-233
2. Cohen MM (1977) Genetic perspectives on cranio-
synostosis and syndromes with craniosynostosis. J
N eurosurg 47: 886-898
3. Kushner J, Alexander E Jr, Davis CH et al. (1972)
Crauzon's disease (cranio-facial dysostosis). Modern
diagnosis and treatment. J Neurosurg 37:434-441
4. Myrianthopoulos NC (1977) Epidemiology of central
nervous system malformations. In: Vinken PJ, Bruyn
GW (eds) Handbook of clinical neurology, vol 30.
North Holland, Amsterdam, pp 139-171
5. Peterson SJ, Pruzansky S (1974) Palatal anomalies
in the syndrome of Apert and Crouzon. Cleft Palate
J 11 : 394-403
6. Roberts JR, Rickham PP (1970) Craniostenosis fol-
lowing Holter valve operation. Dev Med Child Neu-
ral [SuppI22] 12: 145-149
7. Saper JR (1979) Disorders of the bone and the ner-
vous system: the dysplasias and premature closure
syndromes. In: Vinken PJ, Bruyn GW (eds) Hand-
book of clinical neurology, vol 38. North Holland,
Amsterdam, pp 413-429
8. Shillito J Jr, Matson DD (1968) Craniosynostosis.
A review of 519 surgical patients. Pediatrics 41:
829-853
Craniosynostosis
Fig.8.1a-d. A 6-week-old boy presenting trigonoce-
phaly with narrow, prominent forehead and normal neu-
rologic examination. CT: characteristic deformation of
the frontal bone. The metopic suture is dense, fused;
the coronal and lambdoid sutures have a normal appear-
ance (c). The intracranial structures are normal, as in
nearly all observations of effective stenosis of the me-
topic suture
Fig. 8.3a-f. A 7-month-old boy with Apert's syndrome,
psychomotor retardation. CT: the cranial base is short-
ened (a, b); hypertelorism, shallowing of the orbits with
359
Fig. 8.2a-d. A 3-year-old boy with plagiocephaly, nor-
mal neurologic examination. CT: asymmetry of the zy-
gomatic processi (a); the orientation of the orbits is de-
viated to the right (b); complex craniosynostosis with
fusion of the metopic and both coronal sutures (c); de-
formation of the frontal lobes (d)
bilateral proptosis (a); stenosis of both coronal sutures,
but the metopic and lambdoid sutures are detectable
(e); enlargement of the ventricular system (c, d, 1)
360
Fig. 8.4a-f. A 5-day-old boy with cloverleaf skull, Crou-
zon's disease. CT: anteroposterior shortening of the cra-
nial base with enlargement of the temporal fossae (a,
b) which contrasts with the transverse compression ob-
8.1.2 Cranial Fibrous Dysplasia
Fibrous dysplasia is characterized by intraos-
seous proliferation of fibrous tissue of unknown
etiology. There is no sex predilection. Onset is
most often in childhood or early adulthood. In
the series in our hospital reported previously
(1), the age of onset was below 15 years in 31
of 54 observations.
Fibrous dysplasia is a disease with multiple
presentations. There are forms with one osseous
location (monostotic), forms with multiple loca-
tions (polyostotic), and forms with cutaneous
nevi, endocrine signs, and multiple osseous loca-
tions (Albright's syndrome). The relative fre-
quency of the three different types is difficult
to establish and the figures reported depend es-
sentially on the pediatric, orthopedic, or cranio-
facial orientation of the different series. Thus
the reported incidence of craniofacial forms var-
Miscellaneous
served on higher views (d-t) and is due to stenosis of
the sagittal suture (d-t); hypertelorism, shallow brbits,
and proptosis (a, b); lacunar skull (d-t)
ies from 20% to 50% and even 100% (3-5),
that of Albright's syndrome from 2% to 34%
(3, 5), and that of the polyostotic forms from
10% to 74% (2, 3, 5).
In the present craniofacial series, the clinical
manifestations revealing the dysplasia were, in
nearly all the cases, signs of osseous deforma-
tion, such as asymmetrical frontal bulging, ex-
ophthalmos, or nasal obstruction and headache.
Visual disturbances, rarely present at onset,
were observed in 11 of the 34 pediatric cases.
They consisted most often of progressive or
acute diminution of visual acuity. Albright's
syndrome with precocious puberty was ob-
served in one case (Fig. 8.9).
Skull films, tomograms, and CT are diag-
nostic and distinguish three radiologic forms:
- The sclerotic form with thickening and con-
densation of the bone (Figs. 8.5, 8.6, 8.9)
Cranial Fibrous Dysplasia
The cystic form with well-delimited intraos-
seous lacunae
The mixed form with alternating sclerotic and
cystic areas (Figs. 8.6, 8.8)
Cranial forms of fibrous dysplasia are usual-
ly monostotic, with basal (sphenoidal and eth-
moidal) or orbitofrontal lesions (1) which are
generally asymmetrical.
Treatment is essentially neurosurgical and is
indicated in cases of diminution of visual acuity,
which may represent a neurosurgical emergen-
cy, and in patients with craniofacial deforma-
tion, for cosmetic reasons (1).
361
References
1. Derome PJ, Visot A (1983) La dysplasie fibreuse
cranienne. Neurochirurgie [SuppI1] 21: 1-117
2. Harris WH, Dudley HR, Barry TR (1962) Natural
history of fibrous dysplasia. J Bone Joint Surg
44:207-233
3. Mouterde P, Rigault P, Padovani JP (1978) Les pro-
blemes de la dysplasie fibreuse de l'os de l'enfant.
Chir Pediatr 19: 169-178
4. Pritchard JE (1951) Fibrous dysplasia of bone. Am
J Med Sci 22:313-332
5. Ramsey ME, Strong EW, Frazell EL (1968) Fibrous
dysplasia of cranio-facial bones. Am J Surg 116: 542-
547
Fig. 8.Sa-f. A 13-year-old boy with craniofacial defor-
mation, unilateral exophthalmos, and diminution of vi-
sual acuity. CT: sclerotic form of fibrous dysplasia with
marked thickening and condensation of the left orbito-
frontal osseous structures extending to the ethmoid and
sphenoid. Compression of the left optic canal and reduc-
tion of the size of the left orbit
362
Fig. 8.7 a-d. A 7-year-old boy with marked craniofacial
deformity including progressive hypertelorism evolving
since the age of 4 years, bilateral proptosis, bilateral
marked diminution of visual acuity. CT: essentially cys-
tic form of fibrous dysplasia with cystic cavities expand-
ing the osseous cortices of the maxillaries, ethmoid, and
sphenoid, mimicking an intracranial mass (d)
Miscellaneo us
Fig. 8.6a-d. A 15-year-old boy with marked craniofacial
deformity, right exophthalmos with marked diminution
of visual acuity. CT: essentially sclerotic form of fibrous
dysplasia involving the right half of the mandible, the
right maxillary and temporal bone, the right orbitofron-
tal region, and the left frontal bone. Reduction of the
optic canal and of the right orbit, resulting in proptosis
Fig. 8.8a-d. A 6-year-old boy with progressive hyperte-
lorism, proptosis, and bilateral marked diminution of
visual acuity. CT: mixed form of fibrous dysplasia in-
volving the maxillary, ethmoid, and sphenoid
Osteopetrosis (Albers-Schonberg's Disease)
Fig. 8.9a-e. A 12-year-old girl with precocious isosexual
puberty at the age of 5 years and multiple cutaneous
nevi suggesting the diagnosis of Albright's syndrome.
Tomogram (a) and CT (b-e): sclerotic form of fibrous
dysplasia involving the sphenoid bone. The suprasellar
region has a normal appearance
8.1.3 Osteopetrosis (Albers-Schonberg's
Disease)
Osteopetrosis is a rare hereditary disease char-
acterized by the persistance of calcified cartilage
within the marrow space and at the metaphyseal
ends of the bones. In severe cases encroachment
on the marrow spaces may cause severe anemia.
Aplastic anemia may be associated with throm-
bocytopenia and leukopenia. Hepatomegaly,
splenomegaly, and lymphadenopathies are fre-
quent clinical findings. Optic atrophy may ap-
pear in infants and children (2). Psychomotor
retardation is frequent in severe forms (3).
The bone changes are due to failure of the
resorptive mechanism of calcified cartilage,
which is not replaced by mature bone (1). Bone
marrow transplants may stop the evolution and
363
lead to improvement of the anemia and of the
osseous lesions.
Radiologic examination shows diffuse in-
crease in density of the skeleton. The cortices
of the long bones are thickened, sometimes to
the point that the marrow space disappears. Per-
sistence of calcified cartilage within the marrow
spaces explains the" bone in bone" appearance
observed in severe forms. Abnormal osseous
shape is particularly marked in the long bones,
which may show club-like spreading at the
metaphyseal ends. Cranial involvement may be
observed from the neonatal period on, with
amorphous thickening and densification of the
cranial base (Fig. 8.10). With progressing dis-
ease, thickening of the cranial base may lead
to obstruction of the optic and internal auditory
canals. Thickening and densification of the cal-
364
vanum become apparent in early childhood
(Fig. 8.11).
Hydrocephalus is occasionally observed (4)
and is thought to be secondary to increased ve-
nous pressure. Calcifications of the basal gan-
glia were noted in three familial observations
(5). In one of seven personal observations, intra-
cerebellar calcifications were observed after
marrow transplantation (Fig. 8.11 d), probably
secondary to intensive mobilization of calcium.
Severe forms of osteopetrosis result in death
in infancy and early childhood owing to anemia,
hemorrhagic complications, or osteomyelitis.
Fig.8.10a-d. A 3-month-old child of consanguinous
parents with severe form of osteopetrosis. Skull film (a)
and CT (b--d) already show diffuse densification and
Miscellaneous
References
1. Edeiken J (1981) Roentgendiagnosis of diseases of
bone, vol II. Williams and Wilkins, Baltimore
2. Hoyt CS, Bilson FA (1979) Visual loss in osteopetro-
sis. Am J Dis Child 133: 955-958
3. Klintworth OK (1963) The neurologic manifestations
of osteopetrosis (Albers-Schonberg disease). Neurol-
ogy 13:512-518
4. McCune DJ, Bradley C (1934) Osteopetrosis in an
infant. Am J Dis Child 48:949-1000
5. Whyte MP, Murphy PA, Fallon MD et al. (1980)
Osteopetrosis, renal tubular acidosis and basal gan-
glia calcifications in 3 sisters. Am J Med 69: 65-74
thickening of the cranial base, contrasting with a calvar-
ium of normal appearance
Generalized Cortical Hyperostosis (Van Buchem's Disease)
Fig. 8.11 a-e. A 3-year-old boy with a severe form of
osteopetrosis including aplastic anemia, frequent infec-
tious problems, and early visual loss. CT (a-c) shows
diffuse thickening and densification of the skull. After
marrow transplantation the anemia clearly improves.
CT (d, e) reveals apparent cerebral atrophy which may
be attributed to corticotherapy and calcifications in the
cerebellar hemispheres which are thought to be related
to mobilization of calcium
8.1.4 Craniometaphyseal Dysplasia
Craniometaphyseal dysplasia is a rare congeni-
tal and hereditary condition (3, 8) which seems
to overlap largely with metaphyseal dysplasia
or Pyle's disease, with which it shares most of
the skeletal signs.
The clinical signs are generally discrete: the
patients are somewhat taller than average for
their age, hypertelorism is not pronounced, and
enlargement of the tubular bones can be de-
tected by palpation. In severe forms, diminution
of visual acuity, progressive deafness, and pal-
sies of cranial nerves appear in late childhood
and early adulthood; this was the case in two
personal observations.
Skeletal films show spreading of the ends
of the long bones owing to lack of modeling.
The cortex within the spreading is thin. Else-
where the cortex is of normal thickness and the
bone of normal diameter.
365
Cranial involvement is most dramatic at the
cranial base, where diffuse, marked thickening
of the osseous structures leads to progressive
compression of the foramina (1, 5) (Fig. 8.12).
The calvarium is diffusely thickened.
Progressive diminution of visual acuity and
deafness may indicate neurosurgical decompres-
sion (4).
8.1.5 Generalized Cortical Hyperostosis
(Van Buchem's Disease)
Van Buchem's disease is an autosomal recessive
sclerosis of the diaphysis with cranial involve-
ment.
It is asymptomatic except for progressive au-
ditory and visual disturbances (6, 7) and facial
nerve palsies occurring in the late teens. Serum
alkaline phosphatase may be elevated.
The roentgenographic features consist of
symmetrical sclerosis of the skull, clavicles, ribs,
366
and long bone diaphyses. The sclerosis is ac-
companied by thickening of the endostal surface
of the cortex, but there is no increase in the
diameter of the bone.
References
1. Carlson DH, Harris GBC (1972) Cranio-metaphyseal
dysplasia. A family with 3 documented cases. Radiol-
ogy 103:147-151
2. Edeiken J (1981) Roentgen diagnosis of diseases of
bone, vol II. Williams and Wilkins, Baltimore
3. Malpuech G, Rainaut EJ, Merle J et al. (1974) Dys-
8.1.6 Achondroplasia
Achondroplasia is a congenital abnormality
characterized by slow growth of the cartilage
and retarded enchondral ossification contrast-
ing with almost normal periosteal bone forma-
tion. The tubular bones are thus short and thick,
and affected children appear dwarflike, with
short limbs and relatively large trunk and head.
Miscellaneous
plasie cranio-metaphysaire. Etude c1inique, genetique
d'une observation. Arch Fr Pediatr 31: 71-76
4. Millard DR Jr, Maisels DO, Batstone JHF et al.
(1967) Craniofacial surgery in craniometaphyseal
dysplasia. Am J Surg 113:615-621
5. Mori PA, Holt JF (1956) Cranial manifestations of
familial metaphyseal dysplasia. Radiology 66: 335-
343
6. Van Buchem FSP, Hadders HN, Hansen JF et al.
(1962) Hyperostosis corticalis generalisata. Am J
Med 33: 387-397
7. Van Buchem FSP (1971) Hyperostosis corticalis gen-
eralisata. Eight new cases. Acta Med Scand
189:257-267
8. Waller N (1966) Pyle's disease or cranio-metaphyseal
dysplasia. Ann Radiol 9: 197-207
Fig. 8.12a-d. A 16-year-old girl of high stature (1.86 m),
with slight hypertelorism and progressive visual loss.
CT: marked thickening and condensation of the skull
with constriction of the basal foramina. Skeletal films
confirmed diagnosis of craniometaphyseal dysplasia in
showing spreading of the metaphyseal ends of the long
bones
Slow growth of the base of the skull, which
is of cartilaginous origin, and precocious synos-
tosis of the bones result in shortness of the base,
contrasting with a calvarium which develops
normally, since it originates from membranous
bone.
Shortness of the base of the skull may lead
in severe cases to:
- Compression of the basal cisterns
Achondroplasia 367

Reduction of the volume of the posterior
fossa
Compression of the foramen magnum
This explains the neurologic symptoms en-
countered in severe cases, which include para-
plegia owing to medullar compression and hyd-
rocephalus owing to blockage of the basilar
cisterns (1-3). Skull films and CT show a nar-
row cervical spinal canal and foramen magnum
(Figs. 8.13, 8.14) and a short cranial base con-
trasting with a normal calvarium. The contours
of the posterior fossa may have an irregular ap-
pearance (Fig. 8.14), and reduction in volume
of the posterior fossa may lead to cisternal com-
pression and even herniation of the cerebellum
into the supratentorial compartment (Fig.
8.14d, e). Dilatation of the lateral ventricles
usually remains moderate (Fig. 8.13), but may
require shunt operation in more severe cases
(Fig. 8.14).
References
1. Cohen ME, Rosenthal AD, Matson DD (1967) Neu-
rological abnormalities in achondroplastic children.
J Pediatr 71: 367-367
2. Pierre-Kahn A, Hirsch JF, Renier D et al. (1980)
Hydrocephalus and achondroplasia. A study of
25 observations. Child's Brain 7: 205-219
3. Yamada H, Nakamura S, Tajima M et al. (1980)
Neurological manifestations of pediatric achondrop-
lasia. J Neurosurg 54:49-57

Fig. 8.13 a, b. A 15-year-old achondroplastic boy show-

ing progressive weakness of the lower limbs. CT: narrow
foramen magnum, moderate enlargement of the lateral
ventricles

Fig. 8.14a-e. A 6-month-old achondroplastic boy; ven- I>

tricular shunt operation for evolutive hydrocephalus at
the age of 3 months. CT (views a, b enlarged): very nar-
row foramen magnum (a, b), small posterior fossa (c)
with ascension of the cerebellar vermis (d, e)
368
8.1.7 Atlanto-Occipital Malformations
Some atlanto-occipital malformations may be
associated with neurologic troubles, especially
those with hypoplasia of the basiocciput, occipi-
tal vertebra, and ascension of the axis, leading
to basilar impression and reduction in size of
the foramen magnum.
Because this abnormality is congenital, it
might logically be expected that diagnosis be
made in infancy (1). To our knowledge, how-
ever, no case of craniovertebral joint abnormali-
ties with progressive neurologic signs has been
reported in infancy or early childhood.
In four personal cases concerning children
aged 7-14 years, the clinical signs included pyra-
midal syndrome (three cases), cerebellar syn-
drome (two cases), short and stiff neck (three
cases), palsies of the mixed cranial nerves (three
cases), and moderate mental retardation (two
cases). Weakness of the lower limbs and ataxia
were the most frequent neurologic signs in adult
cases reported in the literature (2).
Fig. 8.15a-c. A 9-year-old boy with stiff neck, pyramidal
syndrome. Skull films and tomograms (c): Hypoplasia
of atlas and fusion of its anterior arch to the basi occiput ;
basilar impression with ascension of the odontoid pro-
cess into the foramen magnum. CT after intrathecal in-
jection of metrizamide (a-b): ascension of odontoid pro-
cess into the foramen magnum with diminution of its
diameter, but no apparent compression of the medulla
and of the spinal cord; the fossa posterior has a normal
appearance
Miscellaneous
Skull films and tomograms best demonstrate
the osseous malformation (Figs. 8.15, 8.16). CT
detects associated cerebral and medullar lesions,
which in our series consisted of syringomyelia
(two cases), syringobulbia (one case), and ar-
rested hydrocephalus (one case) (Figs. 8.16,
8.17). Deformation of the brain stem with for-
ward displacement of the pons bulging into the
interpeduncular cistern and compression of the
outlets of the fourth ventricle were best demon-
strated on sagittal NMR views (Figs. 8.16,
8.17).
Surgical enlargement of the constricted fora-
men magnum in our four patients led to slight
improvement of the neurologic signs in one and
to stabilization of the symptoms in the other
three.
References
1. KruyffE (1965) Occipital dysplasia in infancy. Radi-
ology 85: 501-506
2. McRae D (1960) The significance of abnormalities
of the cervical spine. Am J Roentgen 84: 3-25
Atlanto-Occipital Malformations
Fig.8.16a-e. A 12-year-old boy of short stature with
short and stiff neck, ataxia, pyramidal signs, and weak-
ness of the limbs. Tomograms (a): basilar impression
with hypoplasia of the basiocciput and occipital vertebra
and clear diminution of anterior-posterior diameter of
369
foramen magnum. CT (c-e): syringomyelia from Cl to
CS. NMR (b): deformation of the brain stem with ante-
rior and upward displacement of the pons by the inva-
ginated odontoid process; confirmation of syringomye-
lia
370 Miscellaneous

Fig. 8.17 a--e. A 15-year-old girl with facial hypoplasia, mation of syringomyelia, marked deformation of the
stiff neck, ataxia, pyramidal and cerebellar signs, and brain stem, cerebellar hypoplasia, obstruction of the out-
palsies of the IXth, Xth, and XIIth cranial nerves. CT lets of the fourth ventricle resulting in hydrocephalus
(c--e): syringomyelia from Cl to T1. NMR (a, b): confir-
Histiocytosis X 371

8.2 Histiocytosis X trast enhancement and well-defined limits (see

Sect. 6.1.5), but with no detectable obstacle in
the other three cases. Areas of edematous den-
Brain involvement in histiocytosis X is relatively sity were observed in the cerebellar hemispheres
rare compared to the frequency of the skeletal and around the frontal horns in one case
lesions in this disease. It may have various clini- (Fig. 8.18), suggesting demyelination.
cal and anatomopathologic presentations. Two patients underwent cranial irradiation
In severe multi visceral forms of histiocytos- (15 and 20 Gy) with apparent stabilization of
is X, particularly in the young child, and even the neurologic symptoms. Two years after onset
in the absence of any neurologic signs, ana to- of the cutaneous and multivisceral manifesta-
mopathologic examination (6) may reveal cere- tions, at the age of 2 years 2 months, one patient
bral and meningeal infiltration. Perivascular in- developed seizures, right arm tremor, opistho-
filtrates are composed of reticulum cells and tonos, and papilledema. CT demonstrated spon-
histiocytes with intermingled plasma cells and taneously dense, multiple masses surrounded by
leukocytes; some of these infiltrates may be sur- an edematous halo in the two cerebral hemi-
rounded by hemorrhagic foci. spheres (Fig. 8.19). Contrast enhancement was
Progressive neurologic manifestations, con- marked within the dense areas and in the overly-
sisting of severe cerebellar and pyramidal signs ing cortical and meningeal regions. The mass
and possibly nystagmus and cranial nerve pal- effect was moderate relative to the extension of
sies, may appear in children who have pre- the lesions. High spontaneous density suggested
viously presented eosinophilic granuloma, gen- intra tumoral hemorrhage, which was confirmed
erally associated with signs of hypothalamic by the biopsy findings of hemorrhagic, necrotic
dysfunction as diabetes insipidus (1), obesity (4), tissue with histiocytic infiltration.
and small size (2). Neurologic manifestations
are rarely the first sign of histiocytosis X (3).
Pathologic examination reveals infiltrates com-
posed ofhistiocytes and reticulum cells that may References
develop a tumoral appearance and/or focal ar-
eas of demyelination (4, 7). Supratentorial tu- 1. Beard W, Foster B, Kepes JJ et al. (1970) Xantho-
moral locations are rare and are difficult to matosis of the central nervous system. Neurology
diagnose when not preceded by cutaneous or 20:305-314
visceral manifestations (8). Clinical manifesta- 2. ebellar
Braunstein GD, Whitaker IN, Kohler PO (1973) Cer-
dysfunction in Hand-Schuller-Christian dis-
tions include focal deficit, signs of increased in- ease. Arch Intern Med 132:387-390
tracranial pressure, tumoral meningitis, and sei- 3. Haslam RHA, Clark DB (1971) Progressive cerebel-
zures (5). lar ataxia associated with Hand-Schuller-Christian
In all of five personal observations, the chil- disease. Dev Med Child Neurol13:174-179
4. Kepes JJ (1979) Histiocytosis X. In: Vinken PJ,
dren presented other localizations of histiocy- Bruyn GW (eds) Handbook of clinical neurology,
tosis X before the age of 3 years and always vol 38. North Holland, Amsterdam, pp 93-117
prior to the neurologic manifestations: skeletal 5. Khan A, Fulco JD, Shende A et al. (1980) Focal
eosinophilic granuloma in five cases, hepatome- histiocytosis X of the parietal lobe. J Neurosurg
galy in two cases, diabetes insipidus in two 52:431--433
6. Rube J, De la Pava S, Pickeren JW (1967) Histiocy-
cases, and impetigo in two cases. tosis X with involvement of the brain. Cancer 20:
Four patients aged 6-11 years developed 486--492
progressive and severe cerebellar and pyramidal 7. Rubens-Duval A, Lapresle J, Fardeau M et al. (1966)
signs, with nystagmus in three cases and spas- Les determinations nerveuses de la maladie de Hand-
modic laughter and crying in one case. CT in Schuller-Christian. Sem Hop Paris, Mai 1966: 1425-
1439
these cases revealed moderate to marked ven- 8. Sivalingam S, Corkill G, Ellis WG (1977) Focal eosin-
tricular enlargement, related in one case to a ophilic granuloma of the temporal lobe. J Neurosurg
round cerebellar tumor showing intense con- 47:941-945
372 Miscellaneous

Fig. 8.18a-d. A 13-year-old boy presenting histiocytos-

is X with multiple skeletal lesions diagnosed at the age
of 2 years, pyramidal and cerebellar signs noted at the
age of 7 years, and slow, progressive worsening since.
Re can no longer walk, and speaks only with difficulty.
CT: moderate ventricular enlargement, areas of edema-
tous density in the center of the cerebellar hemispheres
(a-c) and around the frontal horns (d), suggesting de-
myelination

Fig. 8.19a-f. A 2-year-old girl presenting a multivisceral

and cutaneous form of histiocytosis X since the age of
2 months. Recent appearance of seizures, right arm
tremor, opisthotonos, and signs of increased intracranial
pressure. CT with contrast enhancement: dense masses
surrounded by a halo of edematous density in both cere-
bral hemispheres with moderate compression of the lat-
eral ventricles. Biopsy: histiocytic infiltrates, hemorrhag-
. .
IC necrosIs
Neurologic Manifestations of Leukemias and Lymphosarcoma and Their Treatment
8.3 Iatrogenic Diseases
8.3.1 Neurologic Manifestations of Leukemias
and Lymphosarcoma and Their Treatment
In leukemia and lymphosarcoma, neurologic
manifestations were in the past chiefly due to
lymphoblastic meningeal infiltration and intra-
cranial tumoral locations. As a result of more
efficient and also more aggressive therapy gen-
eral survival in leukemias has been improved,
but side effects of treatment are recorded with
increasing frequency. In the frequently puzzling
array of neurologic symptoms that may be en-
countered at various stages of the disease, sever-
al clinical entities have been isolated, generally
correlated to characteristic neuropathologic le-
sions, though the precise etiology often remains
unknown. Early recognition of these entities is
essential for specific treatment, and even in
cases beyond therapeutic help precise classifica-
tion may lead to a better knowledge of the
etiologic factors and thus to a more efficacious
prevention of these complications in future pa-
tients.
8.3.1.1 Neurologic Manifestations Related
Directly to Leukemia and Lymphosarcoma
Lymphoblastic Infiltration of the Brain
and the Meninges
Blood-born leukemic infiltration of the superfi-
cial leptomeninges is frequently present at the
diagnostic stage of the disease or shortly there-
after. However, penetration of the abnormal
cells into the spinal fluid only occurs after inva-
sion and necrosis of the arachnoid trabeculae
(9). Thus leukemic invasion primarily concerns
the arachnoid, remaining extraneuronal, in
close contact with the brain surface, even at an
advanced stage of the disease. Indeed, infiltra-
tion of the brain tissue is seen in less than 15%
of the children who die in relapse (8).
The main clinical manifestations in a series
of 43 patients (2) with lymphoblastic meningeal
infiltration were headache, vomiting, and papil-
ledema probably resulting from cisternal ob-
struction. Other manifestations noted, in de-
373
creasing order of frequency, were: cranial and
spinal nerve palsies, visual disturbances, drowsi-
ness, seizures, hemiplegia, chorea, and signs of
hypothalamic dysfunction. Neither cachexia nor
fever were noted in this series. Several clinical
signs may be misleading. Eosinophilic meningi-
tis may precede lymphoblastic invasion of the
eSF (3). Lymphoblastic infiltration may persist
after treatment even when the eSF is free of
lymphoblasts, as in one of our patients present-
ing headache, visual troubles, and papilledema
after apparent cure of meningeal infiltration.
eT fails to demonstrate lymphoblastic infil-
tration of the meninges, except in rare cases (5,
7, 10) (Fig. 8.20). Tumoral infiltration of the
meninges presents as a well-delimited, homoge-
neous mass with a density slightly higher than
that of the surrounding brain tissue. Density
clearly increases after contrast enhancement!.
The mass may thus be confounded with a men-
ingioma, especially when its volume presents a
contraindication for lumbar puncture and de-
tection of lymphoblasts in the eSF. Arteriogra-
phy does not help to distinguish between tu-
moral lymphoblastic infiltration and men-
ingioma (Fig. 8.20).
Manifestations Related to Lymphoblastic
Infiltration and/or Abnormalities of Hemostasis
Spontaneous and, more frequently, therapy-re-
lated thrombopenia, may lead to intracranial
hemorrhage. Intracerebral hemorrhage is rela-
tively rare, but indicates a poor prognosis. Sub-
dural hematoma may be revealed by severe
headache, focal neurologic deficit, or even chor-
eic movements (1). Hemorrhagic complications
seem particularly frequent in treatment with L-
asparaginase (4).
Acute hemiplegia may exceptionally reveal
promyelocytic leukemia with activated clotting
factors.
Sinus thrombosis has been recorded in the
literature (6) and was observed in several per-
sonal cases. The clinical presentation was
grossly the same in these observations: severe
occipital headache lasting several hours was fol-
lowed by generalized seizures, and papilledema
was noted 2-3 weeks later, resolving spontane-
374
ously in several weeks. CT in the first few days
revealed indirect signs of thrombosis of the lon-
gitudinal sinus: dilatation of the adjacent corti-
cal veins, small areas of edematous and blood
density in the surrounding brain tissue
(Fig. 8.27). Computed angiography confirmed
thrombosis of the longitudinal sinus.
References
1. Bean SC, Ladisch S (1977) Chorea associated with
subdural hematoma in a child with leukemia. J Pe-
diatr 90: 255-256
2. Bernard J, Seligman M, Tanzer J et al. (1962) Les
localisations neuromeningees des leucemies aigues
et leur traitment intrarachidien d'amethopirine:
Nouv Rev Fr HematoI2:812-852
3. Budka H, Gusco A, Jellinger K et al. (1976) Inter-
mittent meningitic reaction with severe basophilia
and eosinophilia in CNS leukemia. J Neurol Sci
28:459--468
4. Cairo MS, Lazarus K, Gilmore RL et al. (1980) In-
tracranial hemorrhage and focal seizures secondary
to use of L-asparaginase during induction therapy
of acute lymphocytic leukemia. J Pediatr 97:
829-833
5. Curless RG (1980) Cranial computerized tomogra-
phy in childhood leukemia. Arch Neurol 37:
306-307
6. David RB, Hadield MG, Vines FS et al. (1975)
Dural sinus occlusion in leukemia. Pediatrics
56:793-796
7. Guillard JM, Candito D, Constant P et al. (1979)
Resultats de la tomometrie encephalique dans les
leucemies aigues lymphoblastiques de l'enfant. Arch
Fr Pediatr 36: 673-685
8. Price RA (1983) The pathology of central nervous
system leukemia. In: Mastrangelo R, Pop lack DG,
Riccardi R (eds) Central nervous system leukemia.
Martinus Nijhoff, Boston pp 1-9
9. Price RA, Johnson WW (1973) The central nervous
system in childhood leukemia. I: The arachnoid.
Cancer 31: 520-533
10. Wendling LR, Cromwell LD, Latchew RE (1979)
Computed tomography of intracerebral leukemic
masses. Am J Roentgenol 132: 217-220
8.3.1.2 Neurologic Complications Mainly
Related to Radiotherapy
Necrotizing Leukoencephalopathy
Necrotizing leUkoencephalopathy, first de-
scribed in 1972 (2), has since received consider-
able interest because of the severity of the clini-
cal troubles and the persisting problems in the
Miscellaneous
interpretation of the neuropathologic lesions (4)
and the etiologic factors. Methotrexate was
originally considered the only cause, but with
a larger number of observations it becomes
more and more evident that radiotherapy is the
principal, if not the only causative factor.
On anatomopathologic examination the le-
sions predominate in the anterior part of the
centrum ovale; they may range from simple
myelin pallor to necrosis with cavitation. The
vessels are numerous with marked alterations
consisting of hyalinization, thrombosis, and en-
dothelial proliferation. No ventriculocortical
gradient and no spinal involvement are ob-
served (3) (personal cases), thus indicating that
intrathecally administered drugs are not the
main cause.
Onset of clinical signs is rapid. Within a few
days the parents note a change in the child's
behavior: it becomes apathic, sad, and develops
slurred speech. Within 1-2 months the child
progressively becomes mute and akinetic. Sei-
zures are unusual. Ataxic gait and pyramidal
and cerebellar signs are the main clinical find-
ings. Choreic movements and signs of increased
intracranial pressure may be transiently ob-
served, but regress spontaneously III 1-
2 months.
EEG reveals bilateral, predominantly anteri-
or slow delta waves. In the CSF a moderate
protein increase is typical, elevation of basic
protein (1) has been noted, but seems not to
represent a specific sign. Progressive improve-
ment always remains partial. The mental and
motor sequelae are severe; they depend essen-
tially on the age of the patient and the nature
of the antileukemic treatment.
This syndrome occurs 2-12 months after
completion of radiotherapy. Although it ap-
pears to be independent of the type of chemo-
therapy, association of some kind of chemother-
apy with the radiotherapy seems necessary to
induce the cerebral lesions. In 12 personal cases,
children of less than 5 years of age had received
24 Gy, whereas most of the older children had
received over 30 Gy.
CT at the acute stage reveals large areas of
edematous density predominating in the anteri-
or half of the cerebral hemispheres (Figs. 8.21,
Neurologic Manifestations of Leukemias and Lymphosarcoma and Their Treatment
8.22). Contrast enhancement within these areas
may be observed (5), but is inconstant and tran-
sient. The lateral ventricles are compressed and
displaced medially. Three to six months later,
the ventricles and cortical sulci progressively en-
large and cerebral atrophy becomes apparent.
The anterior centrum ovale keeps an edematous
density. Multiple small calcifications appear
within several months, most frequently subcort-
ical in location, near the base of the sulci
(Figs. 8.21, 8.23).
References
1. Gangji D, Reaman GH, Cohen SR et al. (1980) Leuk-
oencephalopathy and elevated levels of myelin basic
protein in the cerebrospinal fluid of patients with
acute lymphoblastic leukemia. N Engl J Med
303: 19-23
2. Kay HEM, Knapton PJ, O'Sullivan JP et al. (1972)
Encephalopathy in acute leukemia associated with
methotrexate therapy. Arch Dis Child 47: 344-354
3. Robain 0, Dulac 0, Dommergues JD et al. (1984)
Necrotizing leukoencephalopathy complicating treat-
ment of childhood leukemia. J Neurol Neurosurg
Psychiatry 47:65-72
4. Rubinstein LJ, Herman MM, Long TF et al. (1975)
Disseminated necrotizing leukoencephalopathy: a
complication of treated central nervous system leuke-
mia and lymphoma. Cancer 35: 291-305
5. Shalen PR, Ostrow PT, Glass PJ (1981) Enhancement
of the white matter following prophylactic therapy
of the central nervous system for leukemia. Radiation
effects and methotrexate leukoencephalopathy. Radi-
ology 140:409-412
Acute Hemiplegia
Acute hemiplegia occurs in children with treated
leukemia. It was observed in seven personal
cases (1). The age at onset of leukemia in these
children ranged from 2 years 9 months to
12 years. All had received cranial irradiation of
24 Gy, except for the oldest, who had received
35 Gy. All the children, except the oldest, had
received intrathecal methotrexate. Transient
neurologic signs in the months following com-
pletion of the irradiation were observed in all
cases; they consisted of hemianopsia, hemiple-
gia, seizures, speech problems and behavioral
problems.
Onset of the hemiplegia was acute, 1-5 years
after completion of the radiotherapy (mean
32 months); it was frequently accompanied by
375
hemianopsia, disturbances of consciousness,
status epilepticus, and high fever. The CSF re-
mained normal or showed a moderate increase
of protein.
CT showed a zone of edematous density in
the parietorolandic region with clear contrast
enhancement in the weeks following onset of
the hemiplegia.
Partial and progressive improvement was
observed in the following weeks and months,
but one patient died at the acute stage and three
patients later, at 6 months, 2 years, and 5 years.
The neuropathologic findings in the case of
the patient who died 5 years after the acute dis-
ease were suggestive of sequelae of irradiation.
Astrocytic gliosis with large spongy areas was
noted in the molecular layer. The deeper cortical
layers contained numerous pyknotic neurons,
and the white matter showed areas of demyelin-
ation and of perivascular disintegration with
vascular calcifications.
Reference
1. Lalande G, Dulac 0, Marsault C et al. (1980) Acci-
dent vasculaire cerebral apres traitement prophylac-
tique sur Ie syteme nerveux au cours des leucemies
aigues lymphoblastiques et lymphomes. Ann Radiol
23:81-86
Mineralizing Microangiopathy
Mineralizing micro angiopathy is characterized
by focal calcifications in the central nervous sys-
tem (1), predominating in the walls of the vessel
and the surrounding parenchyma. The disease
usually begins in the putamen and later extends
to the deep cortical layers and the arterial
border zones. Cerebellar involvement is excep-
tional.
The most frequent neurologic signs are sei-
zures, ataxia, focal neurologic deficits, and dis-
orders of memory and behaviour. EEG shows
diffuse or focal slow waves or spike-wave activi-
ty. However, some children appear clinically
normal (3).
CT lesions appear at the end of the first year
following irradiation and consist of grossly sym-
metrical calcifications located in the basal gan-
glia. These calcifications may enlarge progres-
sively, and other calcifications may appear
376
secondarily III the subcortical regIOns
(Figs. 8.24-8.26, 8.28, 8.30).
Radiotherapy seems to represent the promi-
nent etiologic factor. The lesions may appear
after radiotherapy as sole treatment, as in cere-
bral tumors, but associated chemotherapy may
increase the risk (2, 4). The risk is clearly more
elevated in younger children.
References
1. Flament-Durand J, Ketelbant-Balasse P, Maurus R
et al. (1975) Intracerebral calcifications appearing
during the course of lymphocytic leukemia treated
with methotrexate and X-rays. Cancer 35: 319~325
2. McIntosh S, Fischer DB, Rothman SO et al. (1972)
Intracranial calcifications in childhood leukemia: an
association with systemic chemotherapy. J Pediatr
91 :909~913
3. Peylan-Ramm N, Poplack DO, Pizzo PA et al. (1978)
Abnormal CT -Scans of the brain in symptomatic
children with acute lymphocytic leukemia after pro-
phylactic treatment of the central nervous system
with irradiation and intrathecal chemotherapy. N
Engl J Med 298:815~818
4. Price RA, Birdwell DA (1978) The central nervous
system in childhood leukemia. III: Mineralizing mi-
croangiopathy and dystrophic calcifications. Cancer
42:717~728
Mental Retardation
The overall incidence and severity of mental re-
tardation after central nervous system irradia-
tion seems variable in different series (3, 7).
Young age of the patient at the time of the ra-
diotherapy seems to have a close correlation to
later learning disabilities: 35% of children of
less than 5 years developed learning disorders,
compared to only 18% in a whole series of leu-
kemic patients (5). Another close correlation ex-
ists with the somnolence syndrome that may oc-
cur 6-8 weeks after completion of radiotherapy.
Twenty-five percent of the patients presenting
this syndrome later developed learning difficul-
ties, whereas none of the patients who did not
have this syndrome later displayed such difficul-
ties (1).
CT in patients with learning difficulties, dis-
turbances of memory, and mental retardation
after treatment for leukemia is frequently nor-
mal, but may show various abnormalities. Cere-
bral atrophy seems to represent the most fre-
Miscellaneous
quent abnormality (2, 4). "Cerebral atrophy"
may be transient, secondary to prophylactic
treatment (6). In our series mental retardation
and cerebral atrophy were not directly corre-
lated: moderate cerebral atrophy was frequently
observed in children without apparent learning
problems. Mineralizing microangiopathy as the
cause of isolated learning disability was clearly
less frequent.
References
1. Ch'ien LT, Aur RJ, Stagner S et al. (1980) Long-term
neurological implications of somnolence syndrome in
children acute lymphocytic leukemia. Ann Neurol
8:273~277
2. Croslay CI, Rorke LB, Evans A et al. (1978) Central
nervous system lesions in childhood leukemia.
Neurology 28: 678~685
3. Eiser C (1978) Intellectual abilities among survivors
of childhood leukemia as a function of centra,! ner-
vous system irradiation. Arch Dis Child 53: 391~395
4. Enzmann DR, Lane B (1978) Enlargement of sub-
arachnoid spaces and lateral ventricles in pediatric
patients undergoing chemotherapy. J Pediatr
92:535~539
5. Inati A, Sallan SE, Cassady JR et al. (1983) Efficacy
and morbidity of central nervous system "prophylax-
is" in childhood acute lymphoblastic leukemia. Blood
61:297~303
6. Lund E, Harsborg ~ Pedersen B (1984) Computed
tomography of the brain following prophylactic treat-
ment with irradiation and intraspinal methotrexate
in children with acute lymphoblastic leukemia. Neu-
roradiology 26: 351~358
7. Soni SS, Marton ON, Pitner SE (1975) Effects of
central nervous system irradiation on neuropsycho-
logical functioning of children with acute lympho-
blastic leukemia. N Engl J Med 292: 113~ 118
Secondary Cerebral Tumors
Secondary malignancy after treatment of leuke-
mia represents a more and more frequent prob-
lem (3).
Meningiomas developing after radiotherapy
appear to represent the most frequent secondary
intracranial tumors (2). Their occurrence in pe-
diatric patients seems exceptional, and in two
personal observations they were secondary to
irradiation of posterior fossa tumors. To our
knowledge there exists no observation in rela-
tion to treatment of leukemia in childhood.
Glioblastoma after treatment of childhood
leukemia has been reported in two recent papers
Neurologic Manifestations of Leukemias and Lymphosarcoma and Their Treatment
(1, 4) and was observed in two personal cases
confirmed by biopsy or neuropathologic exami-
nation. In two other personal observations, the
appearance of the cerebral tumor strongly sug-
gested the diagnosis of glioblastoma, but there
was no histologic confirmation.
All six patients had received radiotherapy
- sometimes a high dose - 3-6 years earlier. The
four patients of our series had presented severe
neurologic symptoms prior to the discovery of
the cerebral tumor: acute hemiplegia, severe
mineralizing microangiopathy, and meningeal
leukemia.
Discovery of the tumor was in most cases
"fortuitous" on repeat CT for preexisting cere-
brallesions. CT thus revealed intracerebral cal-
cifications and atrophic lesions concomitant
with a mass lesion typical of glioblastoma (Figs.
8.28-8.30).
References
1. Chung LK, Stryker JA, Gruse R et al. (1981) Glio-
blastoma multiforme following prophylactic cranial
irradiation and intrathecal methotrexate in a child
with acute lymphocytic leukemia. Cancer 47: 2563~
2566
2. Gomori JM, Shaked A (1982) Radiation induced
meningiomas. Neuroradiology 23: 211-212
3. Mosijczuk AD, Ruyman FB (1981) Second malignan-
cy in lymphocytic leukemia. Am J Dis Child
135:313~316
4. Sanders J, Sale GE, Ramberg R et al. (1982) Glio-
blastoma multi forme in a patient with acute lympho-
blastic leukemia who received a marrow transplant.
Transplant Proc 14: 770-774
8.3.1.3 Drug-Induced Brain Toxicity
Vincristine Encephalopathy
Vincristine administration, particularly in the
high doses which are no longer used nowadays
(5), induces seizures in up to 10% of patients.
Complete recovery is the rule and there is no
relapse at subsequent injection of lower doses
(4).
Acute encephalopathy, not dose-related (6),
is relatively rare and consists mainly of seizures,
disturbances of consciousness, dementia, corti-
cal blindness (12), ataxia and athetosis (3), and
focal motor deficit (7). These manifestations, as-
377
sociated with paralytic ileus and bone pain, ap-
pear a few hours to a week (most often several
days) after injection of the drug. Hyponatremia
is characteristic but may be absent. Arterial hy-
pertension is occasionally mentioned (6). Some
children die within a few weeks (6, 7), but most
patients recover with mild or no sequelae (2).
Neuropathologic studies disclose nonspe-
cific vascular lesions (6, 7), consisting of patchy
areas of ischemic necrosis, predominating in the
cortical regions.
The anatomoclinical pattern is thus sugges-
tive of hypertensive encephalopathy, but specif-
ic toxicity of vincristine to the vessels cannot
be ruled out.
CT usually remains normal. In one case in
the literature it shows scattered areas of edema-
tous density (2), and in one personal case it
shows edematous areas in the parieto-occipital
regions suggesting ischemic hypertensive lesions
and diffuse brain atrophy (Fig. 8.31).
References
1. Bayrd RL, Rohrbaugh MT, Rassay RB et al. (1981)
Transient cortical blindness secondary to vincristine
therapy in childhood malignancies. Cancer 47:37-40
2. Campbell RH, Marshall WC, Chessels JM (1977)
Neurological complications of childhood leukemia.
Arch Dis Child 52: 850-858
3. Carpentieri U, Lockhart LH (1978) Ataxia and athe-
tosis as side effects of chemotherapy with vincristine
in non-Hodgkin's lymphoma. Cancer Treat Res
62:561~562
4. Johnson FL, Bonnstein rD, Hartmann JR (1973) Sei-
zures associated with vincristine sulfate therapy. J Pe-
diatr 82:699-702
5. Kleinknecht D, Jacquillat C, Weil M et al. (1967) Les
accidents neurologiques de la vincristine. Nouv Rev
Fr Hematol 7: 132~136
6. O'Callaghan MJ, Ekert H (1976) Vincristine toxicity
unrelated to dose. Arch Dis Child 51 :289~292
7. Rosemberg S (1974) Encephalopathie apparue au
cours d'un traitement par la vincristine. Arch Franc
Pediatr 31:391~398
Transient Cerebral Dysfunction After
High-Dose Intravenous Methotrexate
High-dose administration of methotrexate may
be followed 1-2 weeks later in some patients
(less than 3%) by neurologic symptoms such
as dysarthria, seizures, hemiplegia, cranial nerve
378
palsies, and pyramidal signs, all of which may
repeat over a period of 2-3 days and then stop.
Recovery is always complete (1). CT remains
normal.
Reference
1. Allen JC, Rosen G (1978) Transient cerebral dysfunc-
tion following chemotherapy for osteogenic sarcoma.
Ann Neurol 3 :441--444
Encephalomyelopathy After High-Dose BCNU
Therapy
Encephalomyelopathy following high doses of
intravenous BCNU was observed in four adult
cases (1) and in a personal pediatric case. No
irradiation had been performed, and a high dose
of BCNU was administered prior to marrow
transplantation. Neurologic manifestations ap-
peared 3-6 weeks after injection and consisted
of rapidly progressive disorientation, muteness,
pyramidal and cerebellar signs, and nystagmus.
Seizures occurred in one case. EEG disclosed
anterior slow waves, CSF increase in protein.
CT was normal at onset, but 2 weeks later
showed a markedly edematous appearance of
the whole white matter.
On neuropathologic examination, areas of
myelin pallor with axonal swelling, interstitial
edema, and fibrinoid necrosis in the white mat-
ter of the brain and the spinal cord suggested
ischemic lesions.
Similar clinical signs and anatomopatho-
logic lesions have been observed after high in-
travenous doses of cytosine-arabinoside in
adults (3) and after repeated intraventricular
methotrexate administration in children (2)
(Fig. 8.31), even in the absence of cranial irradi-
ation.
References
1. Burger PC, Kamenar E, Schold C et al. (1981) Ence-
phalomyelopathy following high-dose BCNU thera-
py. Cancer 48: 1318-1327
2. Duttner PK, Cohen ME, Brecher ML et al. (1984)
CT abnormalities and altered methotrexate clearance
in children with CNS leukemia. Neurology
34:229-233
3. Lazarus HM, Herzig RH, Herzig GP et al. (1981)
Central nervous system toxicity of high dose systemic
cytosine arabinoside. Cancer 48: 2577-2582
Miscellaneous
8.3.1.4 Iatrogenic Infections of the Central
Nervous System in Leukemia
Immunodepression due to leukemia and to its
treatment favors iatrogenic infections such as
bacterial septicemia with intracranial suppura-
tion (see Sect. 4.4), mycosis, and viral infections
of the central nervous system. We have included
Candida albicans and Aspergillus infection in
this chapter because fungal infections represent
a major cause of mortality in leukemic patients
(5). In our experience the only patients with in-
tracranial fungal infections have been severely
immunodepressed children, most of whom were
undergoing treatment for leukemia.
Acquired toxoplasmosis of the central ner-
vous system has been reported in numerous, re-
cent adult cases with immunodeficiency (8), but
to our knowledge in only relatively rare pediat-
fIC cases.
Fungal Infections of the Central Nervous
System
Candidiasis. Patients with Candida albicans in-
fection generally have severe, prolonged neutro-
penia after induction chemotherapy, unremit-
ting fever while on antibiotics, and superficial
Candida colonization (5). In three personal
cases, two children had overt gingival infection
and the other had subcutaneous candida absces-
ses. Abnormal CSF with moderate increase in
protein and cellular reaction was the earliest and
most reliable sign of central nervous system in-
volvement. Neurologic signs may be manifold
(10), with progressive meningeal syndrome, sei-
zures (3), focal deficits, and increased intracra-
nial pressure. In one personal case, the child
presented with disorientation, hemiplegia, pyra-
midal signs, and nystagmus; in the other two
cases the neurologic signs were limited to head-
ache and progressive cachexia.
Pathologic examination may reveal chronic
granulomatous meningitis of the base (7), multi-
ple small (sometimes large) cerebral abscesses,
and granulomas (10). The great ability of Can-
dida to invade the walls of the vessels may pro-
voke cerebral mycotic aneurysms and embolic
ischemic lesions secondary to endocarditis (9).
Neurologic Manifestations of Leukemias and Lymphosarcoma and Their Treatment
CT lesions were suggestive of fungal infec-
tion in the three personal observations. Multiple
small intracerebral granulomas and abscesses
were seen in all cases. Frequently the diameter
of the granulomas was less than 5-8 mm and
there existed no edematous reaction or mass ef-
fect (Fig. 8.31). Dense infiltration of the cisterns
around the brain stem and ventricular dilatation
were observed in one case (Fig. 8.31).
Aspergillosis. Clinical signs in Aspergillus infec-
tion are generally the same as in candidiasis,
except that pulmonary infiltrates are usually
present at the onset of the disease (5).
The CT appearance is also identical to that
of candidiasis, with the presence of multiple ce-
rebral abscesses and granulomas (2, 4, 6) and
infiltration of the basal cisterns (1).
Fungal infection of the central nervous sys-
tem in leukemic patients must be suspected in
the presence of severe, prolonged neutropenia,
fever, apparent cutaneous or pulmonary infec-
tion, and abnormal CSF. Neurologic symptoms
may be relatively tardive. Bacterial growth of
blood cultures is frequent at this stage and may
lead to the erroneous assumption of bacterial
infection (5). The CT appearance of intracranial
fungal infection is frequently characteristic. De-
finitive diagnosis is based on isolation of the
fungus in the CSF, on cutaneous lesions, or on
bronchoscopy (5).
References
1. Beal MF, O'Carroll CP, Kleinman GM et al. (1982)
Aspergillosis of the nervous system. Neurology
32:473-479
2. Claveira LE, DuBoulay GH, Moseley JF (1976) In-
tracranial infections: investigation by computerized
axial tomography. Neuroradiology 12: 59-71
3. Cornec C, Goas JY, Alix D (1979) M6ningo-enc6-
phalites a candida albicans. Ann P6diatr 26: 330-332
4. Danziger A, Price H (1978) Computed axial tomog-
raphy in intracranial aspergillosis: a report of
2 cases. S Afr Med J 54: 706-708
5. DeGregorio MW, Lee WMF, Linker CA et al.
(1982) Fungal infections in patients with acute leu-
kemia. Am J Med 73: 543-548
6. Enzman DR, Brant-Zawadzki M, Britt RH (1980)
CT of central nervous system infections in immuno-
compromised patients. Am J Neuroradiol 1 :239-
243
379
7. Gorell JM, Palutke WA, Chason JL (1979) Candida
pachymeningitis with multiple cranial nerve pareses.
Arch NeuroI36:719-720
8. Horowitz SL, Bentson JR, Benson F et al. (1983)
CNS toxoplasmosis in aquired immunodeficiency
syndrome. Arch NeuroI40:649-652
9. Seelig MS, Speth CP, Kozinn PJ et al. (1973) Can-
dida endocarditis after cardiac surgery. J Thorac
Cardiovasc Surg 65: 583-601
10. Tveten L (1978) Candidiosis. In: Vinken PJ, Bruyn
GW (eds) Handbook of clinical neurology, vol 35.
North Holland, Amsterdam, pp 413--442
Subacute Measles Encephalitis
Immunosuppression measles encephalitis has
predominantly been reported in children with
acute lymphoblastic leukemia and is presum-
ably due to chemotherapy-induced defects in
immunity. Progressive mental deterioration, fo-
cal motor defects, and epilepsia partialis con-
tinua are the main clinical features (1). Measles
antibodies fail to develop in the CSF and blood
(2). In several personal cases CT showed rapidly
progressive cerebral atrophy and sometimes ar-
eas of edematous density, but could be normal
at the onset of the disease.
Brain biopsy shows viral inclusions and
grows measles virus (1). Delayed cases have
been reported in previously normal patients,
with epilepsia partialis continua, progressive de-
terioration, and delayed increase in CSF
measles antibodies (3).
References
1. Aicardi J, Goutieres F, Arsenio-Nunes ML et al.
(1977) Acute measles encephalitis in children with im-
munosuppression. Pediatrics 59: 232-239
2. Agamanolis DP, Tan JS, Parker DL (1979) Immuno-
suppressive measles encephalitis in a patient with a
renal transplant. Arch Neural 36: 686-690
3. Lyon G, Ponsot G, Lebon P (1977) Acute measles
encephalitis of the delayed type. Ann Neurol
2:322-327
Acquired Cerebral Toxoplasmosis
Opportunistic toxoplasmosis infection has been
reported in numerous immunocompromised pa-
tients (1-5); cerebral involvement is observed
in about 50% of these cases (5).
Appearance of the first neurologic symp-
toms is generally more delayed than in other
380
opportunistic infections, and the time between
the beginning of immunodepressive treatment
and the occurrence of the first symptoms varies
from 3 to 14 weeks. The clinical signs are non-
specific, comprising fever, seizures, focal deficit,
and drowsiness; non-neurologic signs include
interstitial pneumonitis and myocarditis (5).
The CSF shows monocytosis and slightly ele-
vated protein levels; glucose values remain nor-
mal.
CT with contrast enhancement normally
shows single or multiple dense mass lesions, en-
larging on successive examinations; they may
show a center of edematous density and thus
have the appearance of bacterial brain abscess
(3,4).
Serology rarely allows definite diagnosis (1),
which may require brain biopsy. Treatment may
reduce the size of the cerebral masses and im-
Fig. 8.20 a--e
Miscellaneous
prove the clinical presentation, but the overall,
long-term prognosis remains reserved in most
cases (1, 3).
References
1. Emerson RG, Jardine DS, Milvenan FS et al. (1981)
Toxoplasmosis: a treatable neurologic disease in the
immunologically compromised patient. Pediatrics
66:653~655
2. Gleason TH, Hamlin WB (1974) Disseminated toxo-
plasmosis in the compromised host. Arch Intern Med
134: 1059~ 1062
3. Hirsch R, Burke BA, Kersey JH (1984) Toxoplasmo-
sis in bone marrow transplant recipients. J Pediatr
105 :426-428
4. Horowitz SL, Bentson JR, Benson F et al. (1983)
eNS toxoplasmosis in acquired immunodeficiency
syndrome. Arch Neurol 40: 649~652
5. Ruskin J, Remington JS (1976) Toxoplasmosis in the
compromised host. Ann Intern Med 84: 193~199
 Neurologic Manifestations of Leukemias and Lymphosarcoma and Their Treatment
<J Fig. 8.21 a-f. A 3-year-old girl with acute lymphocytic
<J Fig.8.20a~. A 13-year-old boy with rapidly progressive
increased cerebral pressure, hemiparesis, diplopia, fever,
and emaciation. CT before (a, b) and after (c, d) contrast
enhancement: voluminous hemispheric tumor with clear
opacification in contact with the cranial vault, appearing
extracerebral and thus mimicking a meningioma. An-
giography (e): intense tumoral vascularization with ir-
regular vessels deriving from the middle meningeal ar-
tery. Operation: hemorrhagic tumor adhering to the
brain surface. Diagnosis: monocytic acute leukemia
381
leukemia treated by cranial irradiation (24 Gy) and che-
motherapy. Five months after diagnosis she presents
progressive apathy, muteness and diffuse tremor of the
limbs. Examination discloses pyramidal syndrome and
increased proteins in the CSF. CT without contrast en-
hancement 3 weeks after onset of the neurologic symp-
toms (a, c): large zones of edematous density involving
the white matter and the cortex and relative compression
of the lateral ventricles. Follow-up CT without contrast
enhancement 2 months later (c-I): marked cerebral atro-
phy, diffuse, large calcifications in the white matter and
in the subcortical regions
Fig. 8.22a-d. A 10-year-old boy with acute lymphocytic
leukemia treated by cranial irradiation and chemothera-
py. Seven months after diagnosis he presents progressive
behavioral disturbances, muteness, pyramidal and cere-
bellar syndrome. EEG; bilateral anterior slow waves.
CT without contrast enhancement 6 weeks after appar-
ent onset of neurologic symptoms: large, grossly sym-
metrical, edematous zones in the white matter and the
adjacent cortex; numerous calcifications in the white
matter
382
Fig. 8.23a-d. A 7-year-old girl with acute lymphocytic
leukemia. Onset of necrotizing leukoencephalopathy
5 months after diagnosis and 2 months after completion
of radiotherapy. Seven months after onset of neurologic
symptoms examination reveals pyramidal and cerebellar
signs, tetraparesis, and absence of social contact. CT
without contrast enhancement: marked cerebellar and
cerebral atrophy, edematous appearance of the white
matter, multiple subcortical calcifications
Fig. 8.25. A 9-year-old girl treated at the age of 3 years
for lymphosarcoma (35 Gy). Neurologic examination is
normal. CT: grossly symmetrical calcifications in the
posterior temporal regions
Miscellaneous
Fig. 8.24. A 13-year-old girl treated at the age of 4 years
for lymphosarcoma (35 Gy). Neurologic examination is
normal. CT: isolated calcifications in the region of the
basal ganglia
Fig. 8.26a-d. An 8-year-old boy with lymphosarcoma
diagnosed at the age of 6 years and complicated by three
relapses. Onset of neurologic symptoms is acute: status
epilepticus with unilateral left partial motor seizures fol-
lowed by hemiplegia and homonymous lateral hemian-
opsia. CT 2 weeks after onset of neurologic signs: cere-
bral atrophy, subcortical calcifications, and a slight,
spontaneous increase in density in the cortex of the right
parieto-rolandic region (a, b) showing clear contrast en-
hancement (c, d). Neurologic signs regressed completely
in 2 months
Neurologic Manifestations of Leukemias and Lymphosarcoma and Their Treatment
Fig. 8.27a-d. A 14-year-old girl presenting, 10 days after
diagnosis of acute lymphocytic leukemia and before all
treatment, severe headache, status epilepticus followed
by left hemiplegia. CT 1 day after onset of neurologic
signs: area of edematous density in the right parietoro-
landic region (a, b) and a small hemorrhagic focus (b)
without modification after contrast enhancement (c, d).
Suggested diagnosis of venous thrombosis was con-
firmed by computed angiography. Recovery was com-
plete in 5 weeks
Fig. 8.29a--c. An ll-year-old girl with acute lymphocytic
leukemia diagnosed at the age of 3 years. After treat-
ment she presented numerous neurologic complications
such as seizures and regressive right hemiplegia. The cur-
rent episode was progressive in onset with right hemipar-
esis and hemianopsia. CT with contrast enhancement
383
Fig. 8.28a-d. A 12-year-old boy with diagnosis of acute
lymphocytic leukemia at the age of 3 years. Treatment
was followed by numerous neurologic complications
such as seizures, transient hemiplegia, learning difficulty.
Current signs include progressively evolutive increased
intracranial pressure and right hemiplegia. CT without
contrast enhancement 1 month after onset of current
signs: calcifications in the basal ganglia and the white
matter (a), a large partially calcified mass in the left
parietorolandic region. The patient died 5 months later;
there was no anatomopathologic examination
performed 2 months later: calcifications in the basal
ganglia and in the white matter and a large heteroge-
neous tumor located in the posterior half of the left
cerebral hemisphere. The girl died 4 months later; anato-
mopathologic examination revealed a hemispheric glio-
blastoma
384 Miscellaneous

Fig. 8.31 a, b. A 7-year-old girl with acute lymphocytic

leukemia, presenting 3 days after intravenous injection
of vincristine with coma, seizures, arterial hypertension,
and severe hyponatremia. CT with contrast enhance-
ment 2 days after onset: grossly symmetrical areas of
edematous density in the parieto-occipital regions. Clini-
cal signs improved progressively, but 2 months after on-
set the patient still presented cortical blindness

Fig. 8.30a-d. A 15-year-old boy with diagnosis of acute

lymphocytic leukemia at the age of 2 years. Numerous
relapses involved multiple reinduction of therapy, with
a final cumulative irradiation dose of 70 Gy. Numerous
neurologic incidents comprising a regressive hemiplegia
occurred at the age of 3 years. Currently the patient pres-
ents with progressive apathy, increased intracranial pres-
sure, and hemiplegia. CT before (a, b) and after (c, d)
contrast enhancement: signs of mineralizing microangio-
pathy and a large heterogeneous frontal tumor suggest-
ing the diagnosis of glioblastoma

Fig. 8.32a-c. A 10-year-old patient with acute lympho- largement of the lateral ventricles and a diffuse edema-
cytic leukemia, presenting 4 days after a high-dose intra- tous appearance of the white matter. Clinical recovery
venous injection of methotrexate with progressive mute- was complete in 2 weeks
ness, pyramidal and cerebellar signs. CT: moderate en-
Radionecrosis
Fig. 8.33a-d. A 7-year-old girl with acute mono blastic
leukemia, presenting after induction chemotherapy with
fever, progressive cachexia, disorientation, and complex
nystagmus. CSF revealed slight increase in proteins. The
patient had buccal candidiasis. CT after contrast en-
hancement: dilatation of the lateral ventricles, dense in-
filtrates in the basal cisterns (a, b), and a small dense
granuloma in the right parieto-occipital region are sug-
gestive of intracranial fungal infection (c, d)
8.4 Radionecrosis
Radionecrosis has mainly been reported in
adults with a cranial radiation dose exceeding
4500 r (1-5). The risk of cerebral radionecrosis
clearly increases in patients with a daily radia-
tion dose of over 200 rad (5).
The median time of onset of radiation-in-
duced lesions was about 21 months in a series
of adult patients, and the delay was generally
shorter when the daily radiation dose exceeded
200 rad (6). In a personal series of nine children
the delay varied from 2 to 12 months (mean
5 months) and thus was significantly shorter
than in reported adult series (1-5). Delays re-
ported in the literature vary between 3 months
and 18 years (3). The necrotic lesions are most
likely to appear in close proximity to the tu-
moral location (1). They have also been re-
385
ported in patients treated for extracranial tu-
mors (2).
Anatomopathologic examination shows loss
of the normal landmarks between gray and
white matter. The white matter is more severely
affected than the gray matter. It is edematous
and may show small areas of hemorrhage and
extensive areas of cystic degeneration that may
cavitate later. The appearance of the necrotic
region may be difficult to distinguish from tu-
moral recurrence. Microscopically, the most
characteristic change concerns the vessels: their
wall are thickened and show fibrinoid necrosis
and endothelial proliferation that may end in
complete occlusion. Demyelination with relative
preservation of the axons may stay limited to
small patches of myelin loss or may form large
confluent lesions (3).
Clinical manifestations frequently suggest
tumoral relapse with worsening of pre-existing
neurologic symptoms, appearance of progres-
386 Miscellaneous

sive neurologic deficits, seizures, signs of in-

creased intracranial pressure, progressive disor-
ientation and coma. In two of nine personal
cases, the lesions were discovered at systematic
CT follow-up examinations.
CT demonstrates areas of edematous density
showing ring-like or polycyclic contrast en-
hancement and a marked mass effect with ven-
tricular compression. Radiologically, the ap-
pearance of the lesions may thus suggest tumor
recurrence. But the anatomic distribution of the
lesions, which predominate in the field of high-
est radiation dose, may indicate the correct di-
agnosis. In our patients the lesions were bilater-
al in four cases (see Fig. 6.9 in Sect. 6.1.1) and
involved both the infra- and supratentorial com-
partments in one other case (Fig. 8.34).
Spontaneous evolution most often tends to
progressive improvement over months or years.
Simultaneously, the lesions observed on CT re-
gress or disappear (1). Steroid and anticoagu-
lant therapy (4) may be indicated at the acute
stage. In severe cases, excision of the necrotic
areas may be life-saving. Death may occur at
the acute stage in particularly severe and diffuse
cases. In our series, nearly all children were left
with mild to severe cognitive sequelae.

References

1. Deck MDF (1980) Imaging techniques in the diagno-

Fig. 8.34 a-f. A 13-year-old girl presenting a temporo-
sis of radiation damage to the central nervous system.
parietal astrocytoma that on CT with contrast enhance-
In: Gilbert HA, Kagan AR (eds) Radiation damage
ment (a, b) appears as an area of edematous density.
to the nervous system. Raven Press New York
Treatment: surgical excision followed by cranial irradia-
pp 107-127 "
tion. Six months after completion of radiotherapy she
2. Glass 1P, Hwang TL, Leavens ME et al. (1984) Cere-
was readmitted because of signs of increased intracranial
bral radiation necrosis following treatment of extra-
pressure, ataxia, and palsy of several cranial nerves. CT
cranial malignancies. Cancer 54: 1966-1972
with contrast enhancement (c-t): ill-delimited zone of
3. Groothuis DR, Vick NA (1980) Radionecrosis of the
heterogeneous appearance centered by areas of intense
central nervous system: the perspective of the clinical
contrast enhancement in the left half of the posterior
neurologist and neuropathologist. In: Gilbert HA,
fossa and the posterior half of the left cerebral hemi-
Kagan AR (eds) Radiation damage to the nervous
sphere. The location and extension of the cerebral lesions
system. Raven Press, New York, pp 93-106
are against the hypothesis of tumoral spread and indi-
4. Rizzoli HV, Pagnanelli DM (1984) Treatment of de-
cate lesions of radionecrosis predominating in the field
layed radiation necrosis of the brain. 1 Neurosurg
of maximal irradiation. Improvement was progressive
60:589-594
over a period of 2 years
5. Safdari H, Fuentes 1M, Dubois 1B et al. (1985) Radi-
ation necrosis of the brain: time of onset and inci-
dence related to total dose and fractionation of radia-
tion. Neuroradiology 27:44-47
Seizures
8.5 Review of Various Symptoms and
Syndromes in Infancy and Childhood
8.5.1 Seizures
Diagnosis of paroxysmal neurologic phenom-
ena depends on the patient's age, on semiology,
and on the circumstances of their occurrence.
8.5.1.1 Neonatal Period
In the neonatal period, some physiologic phe-
nomena of misleading intensity, such as tremors
and sleep myoclonias, should not be mistaken
for seizures.
Nonepileptic tonic fits may be due to mid-
brain lesions, particularly in intraventricular
hemorrhage. N onepileptic startle myoclonias
when awake, associated with severe dystonic ac-
cesses during sleep, are observed in the rare,
familial hyperekplexia (2).
Epileptic seizures are usually occasional and
often appear as an epiphenomenon complicat-
ing acute neurologic distress of generally evident
etiology, such as:
- Transitory metabolic derangement (i.e., hy-
pocalcemia, hypoglycemia, or hyponatremia)
- Infectious disease (see Sects. 4.1 and 4.5.5
etc.)
- Trauma (see Chap. 7)
- Per- or postnatal anoxia or circulatory dis-
order (see Sect. 5.1, pp. 188 and 190). In these
cases, the seizures confirm that the acute neu-
rologic distress occurred during or soon be-
fore partition, which is useful knowledge
when the child is seen several years later.
On the other hand, seizures may in some
cases represent the first and predominating clin-
ical manifestation and therefore pose an etio-
logic problem that can be solved grossly accord-
ing to the characteristics of the seizures.
a) Partial seizures with onset between 48 h
and 72 h of birth, repeated in the same muscle
group with focal contralateral EEG abnormali-
ties, suggest an ischemic lesion or a hematoma
of a cerebral hemisphere. CT demonstrates the
focal lesion (8, 18) (see Sect. 5.1.2.1, and
Sect. 2.4).
387
b) Clonic seizures with onset between day 2
and day 6, alternating on both sides with nor-
mal interictal neurologic status, suggest a dif-
fuse, transient, cortical dysfunction called" be-
nign neonatal seizures." They may be repeated
for several days before resolving spontaneously
without sequelae. Interictal EEG inconstantly
shows alternating theta sharp waves (27, 31).
CT is normal and usually not necessary for diag-
nosis. The rare familial cases with apparently
dominant transmission appear earlier and per-
sist longer (31).
c) Some neonates develop, in the same age
range, status epilepticus with normal CT but
also show disorders of consciousness, axial hy-
potonia and tremors, and a particular EEG pat-
tern. These patients with "severe idiopathic
neonatal status epilepticus" (18) seem to have
suffered from perpartum ischemia. The status
epilepticus often lasts 4-6 weeks, and the sei-
zures usually include a tonic and apneic compo-
nent.
d) Polymorphous seizures of very early on-
set, high frequency, and long duration, often
associated with tremors and cries suggest pyri-
doxine-dependent seizures (5). The seizures are
sometimes transiently responsive to convention-
al antiepileptic drugs. CT may show transient
edematous appearance of the cerebral hemi-
spheres.
e) Association of partial seizures, myoclon-
ias, and later spasms, with suppression bursts
on EEG, is characteristic of nonketotic hyper-
glycinemia (13) and of neonatal myoclonic ence-
phalopathy (15). The etiology of the latter syn-
drome remains unknown, but the existence of
familial cases and of progressive deterioration
suggests that it may result from one or more
inborn errors of metabolism. In six personal
cases CT was normal.
f) Association of spasms or tonic seizures
and a suppression-burst EEG pattern without
myoclonias was observed in a series of infants
with severe prenatal, generally malformative ce-
rebrallesions (18, 29, 30). Onset of seizures was
generally before the age of 1 month. Among
nine personal cases, CT revealed agenesis of the
corpus callosum as part of the Aicardi syn-
drome in five cases, cortical malformations in
388
one case, and was normal in three cases, in one
of which postmortem neuropathologic studies
revealed cortical malformations.
g) Focal epilepsy may exceptionally begin
in the first weeks of life. CT may reveal focal
malformations (see Sect. 1.4) or remain normal
(18).
8.5.1.2 Infancy
In infancy, benign paroxysmal vertigo, syncope
- particularly that due to trauma or gastro-
esophageal reflux - breath-holding spells, cere-
bello-opso-myoclonic syndrome, and benign
nonepileptic spasms (25) may erroneously sug-
gest epileptic seizures. At this age seizures also
often occur in an already diagnosed disease. In
these cases, the seizures may have a prognostic
value, but generally do not represent an etio-
logic problem. They result from:
- Transient metabolic abnormalities (hypocal-
cemia, hypoglycemia, hyponatremia, dehy-
dration, etc.)
- Inherited metabolic abnormalities (see
Sects. 3.2 and 3.5)
- Cardiorespiratory distress (see Sects. 5.2.1.1
and 5.2.1.6)
- Infectious diseases (see Sects. 4.2 and 4.5)
- Renal diseases such as hemolytic-uremic syn-
drome (see Sect. 5.2.3.1) and arterial hyper-
tension
- Trauma (see Chap. 7)
In infancy several clinical entItIes may be
isolated on grounds of either their particular
clinical presentation or their significance. Fe-
brile seizures are clearly the most frequent,
whereas infantile spasms and partial epilepsies
grossly share the same frequency (11, 12).
a) Febrile seizures are defined as seizures due
to fever unrelated to infection of the central ner-
vous system. They may be simple or complex.
Simple febrile seizures occur in previously nor-
mal infants and children between one and
5 years of age. They are brief, generalized, and
without postictal deficit. The risk of epilepsy
is very small (about 2%) and cannot be pre-
dicted from clinical and EEG data. Febrile sei-
zures are called complex when occuring before
year, when unilateral, prolonged, and/or fol-
lowed by postictal deficit. In a small proportion
Miscellaneous
of cases complex febrile seizures may evolve un-
favorably into status epilepticus, partial epilepsy
or severe myoclonic epilepsy (33). EEG is of
no help in distinguishing between simple and
complex febrile seizures, since in particular it
remains normal in most cases at the beginning
of severe myoclonic epilepsy (16). Skull films
(28) and CT are useless in simple febrile seizures,
but CT may be indicated in frequently repeated
complex seizures, particularly those resistant to
treatment: a previous lesion of the brain is prob-
ably responsible for both the complex seizures
and the following epilepsy.
b) Severe myoclonic epilepsy (16) may be
confused with febrile seizures, although the first
fit usually occurs between 4 and 8 months of
age and is frequently of a complex nature.
Myoclonias, absences, and severe status epilep-
ticus appear in the 2nd or 3rd year of life. CT
is usually normal, although in two personal
cases it showed areas of decreased density at
onset of status epilepticus and severe cortical
atrophy in the same regions 2 weeks later. The
relation between these lesions and the duration
of the seizures was difficult to determine in these
cases.
c) Benign myoclonic epilepsy appears be-
tween 6 months and 3 years of life. Generalized
and partial myoclonias, often in bursts of two
or three, are associated with generalized spike
waves at 2-3 Hz. CT is normal and the progno-
sis generally favorable.
d) Infantile spasms are brief, generalized,
usually symmetrical contractions of the axial
muscles in flexion or extension, typically re-
peated in clusters appearing between 3 and 12
months. They are generally associated with
mental retardation or deterioration. The typical
EEG pattern associates asynchronous spikes
and slow waves of high amplitude (22). The
triad is called West's syndrome, although it is
a heterogeneous group. Indeed, infantile spasms
may result from a focal cerebral lesion such as
a porencephalic cyst (see Sect. 5.1.1, p. 186), or
exceptionally a cerebral tumor (9, 26). More fre-
quently, they result from multiple cerebral le-
sions such as those observed in tuberous sclero-
sis (see Chap. 2), multiple porencephalic cysts,
or agyria (see Sects. 1.3, 1.4 and 5.1.3). In these
Seizures
cases, West's syndrome is obviously the most
frequent type of secondary generalized epilepsy
of infancy, often evolving into Lennox-Gastaut
syndrome. Finally, infantile spasms may result
from an age-related and transient cerebral dys-
function, in the absence of any cerebral lesion.
These" benign infantile spasms" have a recog-
nizable clinical and EEG pattern and heal com-
pletely without sequelae (17). The results of CT
in a prospective nonselected series of infantile
spasms are as follows:
Tuberous sclerosis
Prenatal anoxia-ischemia
Idiopathic porencephaly, focal cortical atrophy
Aicardi malformation
Neonatal bacterial meningitis
Agyria
Neurofibromatosis
Congenital hypotrophy
Neonatal herpes encephalitis
Neonatal dehydration
Down's syndrome
Soto's syndrome
Septal dysplasia with bilateral porencephalies
Leigh's disease
Neonatal adrenoleukodystrophy
Undefined prenatal encephalopathy
Cryptogenic
Total
Steroid treatment may induce a pseudo-
atrophic appearance of the brain on CT (23)
in the week following onset of the treatment
which progressively disappears after cessation
of treatment. This fact should be taken into con-
sideration when interpreting CT scans in infants
with infantile spasms.
e) Partial epilepsies in infancy have grossly
the same etiology as infantile spasms; they may
precede infantile spasms in the first 3 months
of life, particularly in tuberous sclerosis. Com-
plete recovery of partial epilepsy in infancy has
been observed in cryptogenetic cases (11, 12).
CT reveals cerebral lesions of the same fre-
quency and type as in infantile spasms. Tran-
sient, focal areas of contrast enhancement may
be observed exceptionally and seem to represent
a functional phenomenon.
±) Status epilepticus in infancy mainly results
from an acute, cerebral insult, as in 49 of 79 re-
389
ported cases (19), including bacterial or viral
infections (see Sects. 4.2, 4.5.5), head trauma
(see Chap. 7), malignant hyperthermia, dehy-
dration, hemolytic-uremic syndrome (see
Chap. 5), anoxia, and near-miss syndrome (see
Chap. 5). Preexisting cerebral lesions, as in
Sturge-Weber syndrome (see Chap. 2) or in in-
herited metabolic diseases, are more exception-
al. The seizures are generally of short duration
but repeated, without recovery of consciousness
in the interval. In contrast, prolonged seizures
are usually unilateral and apparently idiopathic:
9 the hemiconvulsion-hemiplegia (HH) syndrome
7 (21), which in half the cases is febrile. The fre-
6
6 quency of this disease has greatly decreased over
5 the past 20 years (32) and there is growing evi-
4 dence that in most cases it appears in children
3 with pre-existing cerebral lesions (19). Agenesis
2 of the corpus callosum is a particular condition
1
1 predisposing to HH syndrome (see Sect. 1.1).
1 The prolonged seizures themselves may induce
1 focal cerebral atrophy and gliosis. At the acute
1 stage CT demonstrates swelling and diffuse ede-
1
matous density of the cerebral hemisphere. Two
1
19 to 4 weeks later the involved hemisphere pro-
32 gressively becomes atrophic with enlargement
of the cortical sulci and dilatation of the lateral
100 ventricle, usually predominating in the temporal
horn (32).
g) Myoclonic status epilepticus lasting sever-
al hours or days with frequent relapses may rep-
resent the main epileptic expression in rare cases
of nonprogressive prenatal encephalopathies
(14). It is preceded by mental retardation and
associated with dystonic movements, severe hy-
potonia, and often microcephaly. Severe fetal
distress was noted in four of six personal cases.
CT most often disclosed bilateral cortical atro-
phy predominating in the frontal lobes.
Certain malformations such as hamartoma
of the tuber cinereum, agyria, and Aicardi's syn-
drome, are revealed by more or less specific
types of epilepsy (see Sects. 1.1, 1.4, 1.11).
8.5.1.3 Childhood
In childhood, reflex or cardiac syncopes, benign
paroxysmal vertigo, nocturnal terror, and sleep
myoclonies can be confused with epileptic sei-
zures. Paroxystic kinesigenic choreoathetosis is
390 Miscellaneous

Table 8.1. "Benign", cryptogenic epileptic syndromes in childhood (33)

Syndrome Age of Seizure typc Interictal EEG characteristics

onset mani-
(years) festations

Partial epilepsy with 2-12 Partial motor (facial) None Rolandic and centro temporal
rolandic spikes spikes
Benign occipital epilepsy 2-12 Partial visual None Occipital spikes disappearing
when opening the eyes
Benign "psychomotor" 2-12 Partial complex, affective None Centrotemporal spikes
epilepsy
Absence epilepsy 4-6 Pure absences None Ictal 3-Hz generalized spike-
waves
Benign juvenile myoclonic 10-14 Massive myoclonias None 4- to 5-Hz generalized spike
epilepsy waves
Benign juvenile 10-14 Generalized tonicoclonic None 4- to 5-Hz generalized spike
generalized epilepsy seizures waves
on awakening
Epilepsy with continuous 3-9 Generalized or partial Cognitive Continuous, diffuse spike waves
spike waves during slow motor dysfunction in slow sleep, frontal
sleep predominance

rare and usually shows normal CT results,
though there are occasional exceptions (7).
Occasional seizures are less frequent in chil-
dren than in infants. Their main causes are:
Renal and/or vascular hypertensive encepha-
lopathy, rheumatoid purpura, or acute glo-
merulonephritis. CT may remain normal or
show focal, ischemic cerebral lesions (see
Sects. 5.2.3.1 and 5.2.3.3).
Iatrogenic: especially antineoplastic drugs
(see Sect. 8.3.1.3).
Cardiac: ischemic or suppurative cerebral le-
sions (see Sects. 4.4 and 5.2.1.1).
Infections of the central nervous system, such
as herpes simplex virus and perivenous ence-
phalitis, meningitis, and cysticercosis (see
Chap. 4).
Trauma (see Chap. 7).
Inflammatory diseases, such as epilepsia par-
tialis continua (see Sect. 4.5.4).
Metabolic diseases, such as the Jansky-Biel-
chowsky form of ceroid lipofuscinosis, Lafora
disease, progressive myoclonic epilepsy with-
out Lafora bodies, Huntington's disease, and
Leigh's disease where onset may be marked
by isolated myoclonias and seizures (see
Chap. 3).
The most frequent types of epilepsy in child-
hood are purely functional, not related to any
cerebral lesion. They seem to result from a mul-
tifactorial genetic background. Their course is
generally benign and they are easily controlled
by treatment in over 70% of the cases (10), and
CT examination is not necessary for their diag-
nosis (Table 8.1).
Partial Epilepsies
In some cases of partial epilepsy, CT reveals
a focal lesion. However, discovery of such a le-
sion leads to a curative intervention in only a
small proportion of the patients. Among
536 children with epilepsy, a lesion suggesting
a tumor was found in seven cases with partial
seizures, and corresponded effectively to a tu-
mor in three cases, i.e., less than 1 % of the total
(1). In single partial seizures before the age of
30 years, surgically curable lesions are practi-
cally never observed (6, 24, 34).
One must be aware of several potential mis-
takes resulting mainly from insufficient correla-
tion between clinical features and CT findings.
Characteristics of the ictal events give the best
indication for localization of an eventual cere-
Seizures
brallesion, and the suspected site must be ana-
lyzed with particular attention. Thus, partial
motor seizures of the lower limbs indicate a le-
sion in the paracentral lobes very near to the
vertex, which may be overlooked if no very high
view, close to the vertex, has been obtained.
Some patients have various types of seizures in-
dicating several epileptogenic foci: when disco-
vering a single evident lesion, one may miss
smaller lesions only suggested by the clinical his-
tory. Repeat CT examinations may be necessary
in these cases.
Misleading, apparently functional contrast
enhancement may be observed in rare cases
(35); this vanishes progressively on repeat exam-
inations (Fig. 8.35).
CT is thus particularly indicated in repeated
partial seizures with focal slow waves on EEG
in patients with no neurologic antecedents, and
when the seizures are resistant to anti epileptic
drugs. The cerebral lesion discovered may con-
sist of hemispheric tumors (see Chap. 4), arte-
riovenous malformations, especially cavernous
hemangiomas (see Chap. 5), hamartomas (see
Chap. 1), or infectious lesions such as tubercu-
lomas or cysticercosis (see Chap. 4).
Status epilepticus is a rare but potentially
severe complication of partial epilepsies in chil-
dren. In most cases, the neurologic condition
and the CT appearance remain unchanged af-
terward. In some patients, however, especially
those with a previous neurologic deficit or a
detectable cerebral lesion, the clinical condition
may clearly worsen after the status epilepticus.
In such cases, CT demonstrates focal contrast
enhancement or edema at the acute stage fol-
lowed several weeks later by focal cortical atro-
phy.
Lennox-Gastaut Syndrome
Lennox-Gastaut syndrome is the most frequent
type of secondary generalized epilepsy in child-
hood. Tonic seizures, atonic absences, and var-
ious other types of generalized and partial sei-
zures are associated with generalized slow spike
waves. As in West's syndrome, various specific
causes may be related to characteristic lesions
on CT. In the cases of unknown etiology, CT
391
may remain normal or reveal nonspecific abnor-
malities such as diffuse of focal cerebral atrophy
(20).
The neurologic side effects of antiepileptic
drugs are usually transient. Several reports,
however, suggest evidence of definitive cerebel-
lar atrophy following prolonged treatment with
phenytoin, particularly in girls with prolonged
overdosage. In seven reported (4) and two per-
sonal observations, serial CT examinations re-
vealed a progressive widening of the cerebellar
sulci, the fourth ventricle, and the cisterna
magna.
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Efficacite de la tomodensitometrie dans les epilepsies
de l'enfant. Problemes poses par son utilisation. J
Neuroradioll0:127-129
2. Andermann F, Keene DL, Andermann E et al.
(1980) Startle disease or hyperekplexia: further de-
lineation of the syndrome. Brain 4: 985-997
3. Aubourg P, Dulac 0, Plouin P et al. (1985) Infantile
status epileptic us as a complication of "near-miss"
sudden infant death. Dev Med Child Neurol
27:40--48
4. Baier WK, Beck 11, Tassy Jet al. (1984) Cerebellar
atrophy following diphenylhydantoin intoxication.
Neuropediatrics 15:76--81
5. Banker A, Turner M, Hopkins IJ et al. (1983) Pyri-
doxine dependent seizures and infantile spasms;
Arch Dis Child 58: 415--418
6. Billard C, Santini 11, Tassy J et al. (1984) Les crises
epileptiques accidentelles de l'enfant. Arch Fr Pe-
diatr 41: 629-632
7. Boel M, Casaer P (1984) Paroxysmal kinesigenic
choreoathetosis. Neuropediatrics 15: 215-217
8. Bour F, Plouin P, Jalin C et al. (1983) Les etats
de mal unilateraux au cours de la peri ode neonatale.
Rev EEG Neurophysiol13: 162-167
9. Branch CE, Dyken DR (1979) Choroid plexus papil-
loma and infantile spasms. Ann Neurol 5: 302-304
10. Cavazzuti GB, Cappella L, Nalin A (1980) Longitu-
dinal study of epileptiform EEG patterns in normal
children. Epilepsia 21 : 43-55
11. Chevrie 11, Aicardi J (1978) Convulsive disorders
in the first year of life; neurological and mental out-
come and mortality. Epilepsia 19:67-74
12. Chevrie 11, Aicardi J (1977) Convulsive disorders
in the first year of life: etiologic factors. Epilepsia
18:489--498
13. Dalla Bernardina B, Aicardi J, Goutieres F et al.
(1979) Glycine encephalopathy. Neuropiidiatrie
10:209-225
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14. Dalla Bernardina B, Trevisan C, Bondavalli S et al.
(1980) Une forme particuliere d'epilepsie myocloni-
que chez des enfants porteurs d'encephalopathie
fixee. In: Progress In epileptologia. Liga italian a
contro I'epilepsia (ed), pp 183-187
15. Dalla Bernardina B, Dulac 0, Bureau M et al.
(1983) Encephalopathie myoclonique precoce avec
epilepsie. Rev EEG NeurophysioI12:8-14
16. Dravet C, Roger J, Bureau M (1984) L'epilepsie
myoclonique severe du nourrisson. In: Roger J,
Dravet C, Bureau M (eds) Les syndromes epilep-
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fantile spasms (abstract). 15th epilepsy international
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18. Dulac 0, Aubourg P, Plouin P (1984) Autres syn-
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21. Gastaut H, Poirier F, Payan H et al. (1959) HHE
syndrome. Epilepsia 1 :418-447
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24. Loiseau P, Orgogozo J (1978) An unrecognized syn-
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25. Lombroso C, Fejerrnan N (1977) Benign myoclonies
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26. Mimaki T, Ono J, Yabuchi H (1983) Temporal lobe
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propos du syndrome des convulsions neo-natales du
cinquieme jour. Rev EEG Neurophysiol11 : 390-396
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gengrams in the management of simple febrile sei-
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29. Othahara S, Yamatogi Y, Ohtsuka Y (1976) Prog-
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l'enfant et de l'adolescent. Libbey, London
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Dystonia
Fig. 8.35a-d. A 5-year-old boy presenting partial com-
plex seizures evolving with periods of high frequency
alternating with periods of low frequency of seizures.
Neurologic examination is normal. CT with contrast en-
hancement during a period with frequent seizures (a.
b): large region with cortical contrast enhancement in
the posterior half of the left cerebral hemisphere. CT-
Scan one month later in a period with rare seizures,
after contrast enhancement (c. d): absence of abnormal-
ity
8.5.2 Dystonia
The term dystonia designates abnormal tonus
with a mixture of hyper- and hypotonia. It may
result from pyramidal or extrapyramidal dys-
function, but in clinical practice, the term is usu-
ally used to describe extrapyramidal dysfunc-
tion resulting in prolonged muscle spasms that
distort the limbs and the trunk into characteris-
tic positions, and it is with this meaning that
it will be used in this chapter. Dystonia may
be isolated or be associated with various types
of abnormal movements, such as chorea, athe-
tosis, myoclonias, or tremor.
Dystonia is due to various lesions of the re-
gion of the basal ganglia in the great majority
of cases. The lesions may be detectable by neu-
roradiologic examinations, but more frequently
such examinations remain normal. Table 8.2
shows the main causes of dystonia, divided into
two categories according to whether or not cere-
brallesions are visible on CT.
CT findings in dystonia may consist of:
393
- Focal atrophy with enlargement of the frontal
horns and the third ventricle (see Sect. 3.1.1)
- Areas of edematous density located symmetri-
cally within the region of the basal ganglia
(see Sect. 3.1.3)
Calcifications within the region of the basal
ganglia
- An association of all three types of lesions
The interpreter of clinical and neuroradio-
logic signs must be aware of several clinical con-
ditions that can lead to an erroneous diagnosis:
Nonprogressive lesions of perinatal origin
most often induce a condition characterized
initially by hypotonia progressively followed
by dystonia. However, in rare cases, perinatal
lesions induce a delayed dystonia, sometimes
several years after birth, which may mimic
a progressive disease (27).
Diagnosis of a "stiff baby" is often a difficult
problem, since several different conditions
may have nearly identical clinical presenta-
tions.
Severe prenatal brain lesions
394 Miscellaneous

Table S.2. Causes of dystonia in infancy and childhood

Dystonia with normal CT scan

Primary dystonia
With hereditary transmission:
- torsion dystonia (6, 28)
- juvenile parkinsonism (26)
- dystonia with marked diurnal variation (14)
- familial nonprogressive choreoathetosis (7, 17)
- paroxystic kinesigenic choreoathetosis (3)
Without hereditary transmission:
- idiopathic torsion dystonia (6)
Secondary dystonia
Hereditary neurologic diseases [for review see (18)]:
- Huntington's disease
- Lesch-Nyhan disease
- Hallervorden-Spatz disease (9)
- juvenile neuronal ceroid lipofuscinosis (see Chap. 3)
- galactosemia (18)
- propionic aciduria (18)
- homocystinuria (18)
- glutaric aciduria (18)
- pyruvate dehydrogenase deficiency (18)
Environmental causes:
- intoxications: phenothiazine, phenytoin (10)
- hypernatremia (25)
- perinatal anoxia
- kernicterus
-trauma
- infections of central nervous system
Dystonia with abnormal CT scan Most frequent appearance of lesion
Acute dystonia
- glutaric type I aciduria (13) Edematous areas
- methylmalonic, propionic aciduria (18) Edematous areas
- Leigh's disease (see Chap. 3) Edematous areas
- intoxications: salt, water, methanol (24) Edematous areas
- infections of central nervous system Edematous areas
- vascular disorders (11) Edematous areas
Chronic or progressive dystonia
Hereditary disorders:
- Leigh's disease (see Chap. 3) Edematous areas
- Kearns-Sayre disease and other mitochondrial encephalomyopathies Edematous areas, calcifications
with lactic acidosis
- chorea-acanthocytosis (31) Edematous areas
- chronic GMl gangliosidosis (12) Edematous areas
- Krabbe's disease (see Chap. 3) Edematous areas
- Wilson's disease (see Chap. 3) Edematous areas
- dominantly (22) and recessively (4) transmitted dystonia with Calcifications
basal ganglia calcifications
- xeroderma pigmentosum (8)
- ataxia-telangiectasia syndrome Cerebellar atrophy
Nonhereditary disorders:
- brain tumor Mass lesion
- arteriovenous malformation Typical contrast enhancement
- ischemic lesion (16) (see Sect. 5.1.2.1) Edematous areas
- hypoparathyroidism, pseudohypoparathyroidism (23), AIDS Calcifications
- perinatal injury (27) Edematous areas
- trauma (see Chap. 7) Atrophy, subdural hematoma
Dystonia
A sporadic or hereditary dominant disease
(20)
The hereditary, dominant startle disease
called hyperekplexia (2)
A stiff neck may be caused by a posterior
fossa tumor, by esophageal reflux (Sandifer
syndrome) (33), by retropharyngeal infection,
by phenothiazine intoxication, or by benign
paroxysmal torticollis, which is probably re-
lated to migraine (30).
Several familial cases of dystonia with micro-
cephaly, CSF lymphocytosis, basal ganglia
calcifications, and cerebral atrophy have been
reported in the literature or observed in our
series. The precise origin of the disease re-
mains unknown, but it has been thought to
be genetic (1) or infectious (19). The assump-
tion in the latter case is chronic maternal car-
rying of the infectious agent, as in acquired
immune deficiency syndrome (AIDS), where
basal ganglia calcifications and microcephaly
have been noted in several infants (32).
Acute necrosis of the basal ganglia with se-
vere dystonia represents another disease of
unknown cause (15, 29), though the acute on-
set with fever and abnormal CSF suggests an
infectious origin.
Precise diagnosis is impossible in some chil-
dren with dystonia (5), although the chances
for a definitive conclusion as to etiology are
higher in pediatric than in adult patients (21).
References
1. Aicardi J, Goutieres F (1984) A progressive familial
encephalopathy in infancy with calcifications of the
basal ganglia and chronic cerebrospinal fluid lym-
phocytosis. Ann N eurol 15: 49-54
2. Andermann F, Keene DL, Andermann E et al.
(1980) Startle disease or hyperekplexia: further de-
lineation of the syndrome. Brain 103: 985-997
3. Boel M, Casaer P (1984) Paroxysmal kinesigenic
choreoathetosis. Neuropediatrics 15: 215-217
4. Bollier JF, Bollier M, Gilbert J (1977) Familial idio-
pathic cerebral calcifications. J Neurol Neurosurg
Psychiatry 40: 28~285
5. Bremnom TS, Burger AA, Chaudarhy MY (1980)
Bilateral basal ganglia calcifications visualized on
CT-Scan. J Neurol Neurosurg Psychiatry 43: 403-
406
6. Cooper IS, Cullinan T, Riklan M (1976) The natural
history of dystonia. In: Eldridge R, Fahn S (eds)
395
Advances in neurology, vol 14. Raven Press, New
York, pp 157-168
7. Deonna T, Voumard C (1979) Benign hereditary
(dominant) chorea of early onset. Helv Paediatr
Acta 34:77-83
8. DeSanctis C, Cacchine A (1932) L'idiozia xeroder-
mica. Riv Sper Freniat 56: 269-292
9. Dooling EC, Schoene WC, Richardson EP et al.
(1974) Hallervorden-Spatz syndrome. Arch Neurol
30:7~83
10. Dravet C, DallaBernardina B, Mesajian E et al.
(1980) Dyskynesies paroxystiques au cours des trai-
tements par la diphenylhydantoine. Rev Neurol
136: 1-14
11. Gilroy J (1982) Abnormal computed tomograms in
paroxysmal kinesigenic choreoathetosis. Arch Neu-
rol 39: 779-780
12. Goldman JE, Katz D, Rapin I et al. (1981) Chronic
GMl gangliosidosis presenting as dystonia. Clinical
and pathological features. Ann Neurol 9: 465-475
13. Goodman SI, Norenberg MD, Shikel RH et al.
(1977) Glutaric aciduria: biochemical and morpho-
logical considerations. J Pediatr 90: 746---750
14. Gordon N (1982) Fluctuating dystonia and allied
syndromes. Neuropediatrics 13: 152-154
15. Goutieres F, Aicardi J (1982) Acute neurological
dysfunction associated with destructive lesions of
the basal ganglia in children. Ann Neurol 12:
328-337
16. Grimes JD, Hassan MN, Quarrington AM et al.
(1982) Delayed-onset post-hemiplegic dystonia: CT
demonstration of basal ganglia pathology. Neurolo-
gy 32:1033-1035
17. Haener AF, Carrier RD, Jackson JF (1967) Heredi-
tary non-progressive chorea of early onset. N Engl
J Med 276:122~1224
18. Hagberg B, Kyllerman M, Steen G (1979) Dyskine-
sia and dystonia in neurometabolic disorders. Neu-
ropediatrics 10:305-316
19. Jervis GA (1954) Microcephaly with extensive calci-
um deposits and demyelination. J Neuropathol Exp
NeuroI13:318-329
20. Klein R, Haddow JE, DeLuca C (1972) Familial
congenital disorder ressembling stiff-man syndrome.
Am J Dis Child 124:73~731
21. Koller WC, Cochran JW, Klawans HL (1979) Calci-
fications of the basal ganglia. Computerized tomog-
raphy and clinical correlations. Neurology
29:328-333
22. Larsen T A, Dunn H G , Jan JE et al. (1985) Dystonia
and calcifications of the basal ganglia. Neurology
35:533-537
23. Lowenthal A, Bruyn GW (1968) Calcification of the
striopallidodentate system. In: Vinken PJ, Bruyn
GW (eds) Handbook of clinical neurology, vol 6.
North Holland, Amsterdam, pp 703-725
24. McLean DR, Jacobs H, Mielke BW (1980) Metha-
nol poisoning: a clinical and pathological study.
Ann Neurol 8: 161-167
396
25. Mann TP (1969) Transient choreo-athetosis follow-
ing hypernatremia. Dev Med Child Neurol
11 :637-640
26. Martin WE, Resch JA, Baker AB (1971) Juvenile
Parkinsonism. Arch NeuroI25:494--500
27. Montagna P, Cirignotta F, Gallassi R et al. (1981)
Progressive choreoathatosis related to birth anoxia.
J Neurol Neurosurg Psychiatry 44:957
28. Obeso JA, Rothwell JC, Lang AE et al. (1983)
Myoclonic dystonia. Neurology 33: 825-830
29. Roytta M, Olson I, Sourander P et al. (1981) Infan-
tile bilateral striatal necrosis. Acta Neuropathol
55:97-103
30. Snyder CH (1969) Paroxysmal torticollis in infancy.
Am J Dis Child 117: 458-460
31. Spitz MC, Jankovic J, Killian JM (1985) Familial
tic disorder, Parkinsonism, motor neuron disease
and acanthocytosis: a new syndrome. Neurology
35:366-370
32. Ultmann MH, Belman AL, Ruff HA et al. (1985)
Developmental abnormalities in infants and chil-
dren with acquired immune deficiency syndrome
(AIDS) and AIDS-related complex. Dev Med Child
NeuroI27:563-571
33. Werlin SL, DeSouza BJ, Hogan WJ et al. (1980)
Sandifer syndrome: an unappreciated clinical entity.
Dev Med Child NeuroI22:374--378
8.5.3 Macrocephaly and Hydrocephalus
8.5.3.1 Macrocephaly
Macrocephaly is defined as a head circumfer-
ence exceeding the mean for age, sex, race, or
term of gestation by 2 SD or more. Personal
and familial anamnesis, neurologic examination
including skull transillumination, and fundos-
copic examination are of great clinical help in
determinating the most probable cause. Neu-
rologic examination shows whether or not mac-
rocephaly is associated with signs of hydroce-
phalus or with other neurologic signs. Complete
clinical examination may reveal diagnostic signs
such as cardiac failure in vein of Galen aneu-
rysm, spinal dysraphia, or cutaneous nevi.
Neurocutaneous Syndromes
Macrocephaly in neurocutaneous syndromes
may be specific in origin, as in nevus linearis
sebaceus syndrome, or have various causes, as
in neurofibromatosis.
- Neurofibromatosis may be associated with
primary, frequently asymmetrical, megalence-
Miscellaneous
phaly or with hydrocephalus that may result
from obstruction of the CSF pathways by
various tumors or from aqueductal stenosis.
Tuberous sclerosis is frequently associated
with moderate macrocephaly that usually
does not indicate a particular intracranial
complication.
- Sturge-Weber disease is occasionally compli-
cated by hydrocephalus which seems to be
secondary to subarachnoid hemorrhage.
- Nevus linearis sebaceus syndrome is asso-
ciated with generally unilateral megalence-
phaly and intractable seizures in its most se-
vere form. (See Chap. 2.)
Megalencephaly Without Hydrocephalus
- Benign familial macrocephaly is characterized
by normal neurologic status and by macroce-
phaly in the parents, though in their case it
may have become less marked with increasing
age (5, 12). CT is normal and not necessary
to confirm the diagnosis.
Megalencephaly with nonprogressive mental
retardation represents a heterogeneous group
of diseases of difficult diagnosis: Rarely, CT
shows cortical abnormalities suggesting pa-
chygyria. Most often CT remains normal or
shows only moderate ventricular dilatation,
as in Soto's disease.
Progressive diseases with megalencephaly are
unusual. In Alexander's disease and Van Bo-
gaert-Canavan disease, CT shows edematous
areas within the white matter (see Chap. 3).
In other diseases with inborn error of metabo-
lism and macrocrania CT may remain nor-
mal.
M acrocrania with Pericerebral Fluid
Collections
Benign external hydrocephalus is usually ob-
served in boys with normal neurologic fea-
tures, no signs of hydrocephalus, and marked
skull transillumination. It may be familial (1).
Progressive macrocephaly with positive tran-
sillumination frequently results from sub-
dural hematoma caused by cranial trauma
(see Chap. 7).
Macrocephaly and Hydrocephalus 397

- Progressive external hydrocephalus with axial

1. CSF overproduction
hypotonia and dilatation of the scalp veins
- Papilloma of the choroid plexus
may result from obstruction of venous return.
It is frequently associated with ventricular di- 2. Obstruction of the CSF pathways
latation. - Cerebral malformations:
arachnoid cysts of the midline
H ydranencephaly aqueductal stenosis (including X-linked)
Dandy-Walker syndrome
Hydranencephaly may be associated with mac- Chiari II malformation
rocephaly. Gemellity, diffuse skull transillumin- Walker malformation
ation, and absence of psychomotor develop- communicating hydrocephalus (rare)
agenesis of the corpus callosum (rare)
ment are the most reliable signs. CT is diagnos- cranial malformation (achondroplasia, cervico-
tic (see Chap. 5). occipital malformation)
- Vascular disorders:
Space-Occupying Lesions hydranencephaly
subarachnoid hemorrhage (in prematurity, post-
Intracranial space-occupying lesions may in- traumatic, postoperative in arteriovenous mal-
duce generally asymmetrical macrocephaly by formations)
their size without obstruction of the eSF path- - Infectious diseases:
fetopathy (toxoplasmosis)
ways. This mechanism is infrequent, but is ob- meningitis
served especially in congenital lesions such as cysticercosis
large arachnoid cysts of the vallecula sylvii, ex- - Tumoral lesions :
panding porencephalic cysts, and congenital focal obstruction
hemispheric tumors. cisternal infiltration
spinal tumors

3. Defective CSF resorption

8.5.3.2 Hydrocephalus
- Transient:
Hydrocephalus is usually easy to recognize in benign external hydrocephalus
a child with macrocrania, axial hypotonia, and - Chronic:
venous obstruction
bilateral pyramidal signs. The sunset sign is in- arteriovenous malformation
constant, mainly observed in aqueductal steno-
sis (11). Papilledema is rare.
The causes of hydrocephalus vary widely:
We would like to stress two aspects of hydro-
- Obstruction of the CSF pathways at various
cephal us which can easily be overlooked:
locations, by various obstacles such as tu-
The diagnosis of congenital aqueductal steno-
mors, inflammatory tissue, or cerebral mal-
sis requires confirmation by ventriculography
formation
and regular surveillance because of the possi-
Overproduction of eSF, as in papillomas of
bility of small tumors of the aqueductal re-
the choroid plexi
gion.
- Defective resorption of eSF as observed in
In apparently idiopathic communicating hy-
meningeal malformations (see Sect. 1.4.2) or
drocephalus we have discovered a spinal tu-
diseases with increased cranial venous pres-
mor (most often cervical) in five children aged
sure and/or abnormalities of venous return
2 weeks to 12 years.
Sometimes several mechanisms may be asso-
ciated. In vein of Galen aneurysms, hydroce-
Particular Aspects of Treated Hydrocephalus
phalus may be due to increased cranial venous
pressure, to aqueductal obstruction by the an- Spontaneous ventriculostomy has only very rare-
eurysmal mass, or to cisternal blockage second- ly been reported (7, 9). It is generally located
ary to hemorrhage. The main causes ofhydroce- in the region of the third ventricle between the
phalus in infancy and childhood are as follows: supra pineal recess and the quadrigeminal
398
cistern (7) or at the" normal" location of ventri-
culocisternostomy in the floor of the third ven-
tricle to the interpeduncular cistern (9).
Puncture porencephaly may appear after ventric-
ular puncture in evolutive hydrocephalus (4),
where the pressure of the CSF may progressive-
ly distend the cerebral tissue along the channel
created by the puncture.
Ventriculostomy: Interpretation of CT scans
after ventriculocisternostomy may present nu-
merous difficulties. In normally functioning
ventriculostomy the degree of dilatation of the
lateral ventricles generally remains unchanged,
periventricular edematous areas disappear, and
visibility of the cisternal spaces and of the cere-
bral sulci is a good sign of a successful opera-
tion.
Shunt operation: After shunt operation dilata-
tion of the ventricular system rapidly regresses,
depending on the opening pressure of the shunt-
ing device and on the integrity of the cerebral
tissue. A review of 368 CT scans in 108 patients
showed that enlargement of subarachnoid
spaces after shunting was related to long-stand-
ing high-grade ventriculomegaly and was more
common in congenital and acquired nontu-
moral hydrocephalus. Ventricular asymmetry
was related to the site of the catheter, the tip
being in the smaller ventricle, except when the
ventricles were clearly asymmetrical before
shunting (10).
- Subdural hematoma is secondary to ventricu-
lar collapse in children with fixed head size
and thus more frequent in older children. CT
is diagnostic. Treatment may require clamp-
ing of the catheter or substitution of the de-
vice for a shunt with higher opening pressure.
- Shunt failure may be very acute or extremely
insidious. When acute, CT generally shows
no change since previous examinations; the
lateral ventricles remain small and thus repre-
sent a higher risk for acute increased intracra-
nial pressure (6). Insidious shunt failure may
be overlooked until the patient suffers loss
of vision (2). CT thus is of little help in shunt
failure, except when it shows progression of
ventricular dilatation.
Miscellaneous
- Plain films of the skull, chest, and abdomen
exploring the whole length of the shunt cathe-
ter may reveal disconnection or migration of
a catheter tip, explaining shunt failure.
- The problem of slit ventricle is often difficult
to manage: overfunctioning of the shunt leads
to progressive reduction of the volume of the
ventricles. Once the ventricle is slit-like, shunt
obstruction may occur (3, 8), with signs of
acute increased intracranial pressure. These
episodes of shunt failure generally resolve
spontaneously, but tend to recur at irregular
intervals.
- The "trapped" fourth ventricle results from
blockage of the foramina of Luschka and
Magendie and of the aqueduct. Progressive
cystic dilatation of the fourth ventricle by
CSF secretion within the trapped ventricle
leads to symptoms similar to those of other
posterior fossa space-occupying lesions. CT
(13) shows the cystic fourth ventricle con-
trasting with lateral ventricles of normal or
small size (Fig. 8.36). In the rare cases with
persisting dilatation of the lateral ventricles,
injection of contrast material (metrizamide)
through the ventricular end of the shunt de-
vice reveals obstruction of the aqueduct
(Fig. 8.37). Treatment consists of shunting of
the cystic fourth ventricle.
References
1. Alvarez LA, Maytal J, Shinnar S (1985) External
hydrocephalus and benign familial macrocephaly.
Neurology 35: 197
2. Arroyo HA, McCormick AQ, Farrell K et al. (1985)
Permanent visual loss after shunt malfunction.
Neurology 35: 25-29
3. Chazal J, Janny P, Inthum B et al. (1983) Les ventri-
cules fentes. Neurochirurgie 29:327-331
4. Barrett JW, Mendelsohn RA (1965) Post-traumatic
porencephaly in infancy. J Neurosurg 23: 522-527
5. Day RE, Schutt WH (1979) Normal children with
large heads. Benign familial macrocephaly. Arch Dis
Child 54:512-517
6. Freeman J, DeSouza B (1979) Obstruction of CSF
shunts. Pediatrics 64:111-112
7. Kapila A, Naidich TP (1981) Spontaneous lateral
ventriculo-cisternostomy documented by metriz-
amide CT -ventriculography. J Neurosurg 54: 101-
104
8. Kiekers R, Mortier W, Pothmann R (1982) The slit-
Macrocephaly and Hydrocephalus
ventricle syndrome after shunting in hydrocephalic
children. Neuropediatrics 13: 190-194
9. Mann KS, Khsola VK, Gulati DR (1981) Congeni-
tal ventriculocisternostomy. J Neurosurg 54:98-100
10. Schellinger D, McCullough DC, Pederson RT
(1980) Computed tomography in the hydrocephalic
patient after shunting. Radiology 137: 693-704
11. Swash M (1974) Periaqueductal dysfunction: a sign
Fig. 8.36a-d. A 3-year-old boy treated by shunt opera-
tion for postmeningitic hydrocephalus at the age of
1 year. Recent appearance of episodes of headache and
somnolence, cerebellar ataxia. CT: cystic dilatation of
the fourth ventricle contrasting with slit-like lateral ven-
tricles (a, b). Treatment: insertion of a second shunt
in the fourth ventricle. Control CT (c, d): regression
of dilatation of the fourth ventricle
399
of hydrocephalus. J Neurol Neurosurg Psychiatry
37:21-27
12. Wheaver DD, Christian JC (1980) Familial varia-
tion of head size and adjustment for parental head
circumference. J Pediatr 96: 990-994
13. Zimmerman RA, Bilaniuk LT, Gallo E (1978) Com-
puted tomography of the trapped fourth ventricle.
Am J Roentgenol 130: 503-506
Fig. 8.37 a-d. A 2-year-old boy with complex immune
deficiency syndrome complicated by Listeria meningitis
with hydrocephalus. Persisting disturbances of con-
sciousness and pyramidal and cerebellar signs despite
correctly functioning external derivation. CT with intra-
ventricular injection of contrast material: cystic dilata-
tion of the fourth ventricle, not communicating with
the third ventricle
SUbject Index
Abruptio placentae 185
Abscess, cerebral 139, 153-157
fungal 378, 379
hematogenous 140, 153
in neonatal leptomeningitis
140-144
rupture 140
Abuse, see Child abuse syndrome
Achondroplasia 366-367
Acidosis, lactic or metabolic
115-117,186,189
Acromegaly 309
Adenoma, pituitary
ACTH 255, 309-310
GH 255, 309-310
Prolactin 255, 309-310
Adenoma, sebaceous 94, 95
Adipose density, see Lipoma
290
Adrenal gland, abnormal
129
Adrenoleukodystrophy 111,
129-130
Agenesis, see structure concerned
Agyria
diffuse 4, 6, 14, 15, 26-33
focal 28, 55
Aicardi's syndrome 2, 5-6, 10
Albers-Schonberg disease, see
Osteopetrosis
Albright's syndrome 360-363
Alcaligenes 146
Alexander's disease 111
Alper's syndrome 117-118
Alpha-feto-protein, elevated 137,
289-291
Amenorrhea 34, 255, 389-390
Anaphylactic reaction, maternal
185, 188
Anastomosis, vascular
meningo-cortical 186
placental 188
Anemia
aplastic 363
chronic, fetal 185
chronic, hemolytic 185, 188
Aneurysm 182,215,229,237-238
dissecting 215
fungal 378
of vein of Galen 229, 230-233,
239-242
Angioma
cutaneous 86
cutaneous, trigeminal 99-104
pial 99-104
tuberous, immature, capillary
229, 238, 337-342
Angiomatosis 84
Anoxia
delayed encephalopathy 219
fetal, acute 185
perpartum 189
Antidiuretic hormone
decreased secretion 4, 309
inappropiate secretion 145
increased secretion 309-310
Antigen-antibody reaction 158
Apert's syndrome 4, 357-359
Apoplexia, tumoral 290
Aqueductal stenosis 33-36
in corpus callosum malforma-
tion 3
hereditary, sex-linked 33
in neonatal leptomeningitis 139
in neurofibromatosis 86-88, 296
in pineal tumor 289-291
in toxoplasmosis 176-179
in vein of Galen aneurysm
231
Arachnoid cyst 67-77
of convexity 70
of midline 4, 6, 7
in mucopolysaccharidosis 136
of posterior fossa 69-70
of sellar region 68-69
of Sylvian region 69
Arachnoid space, enlarged focally
89
Arhinencephaly, see Prosencephaly
Arterial dysplasia 213-214
see Fibromuscular dysplasia,
Homocystinuria, Moya -moya,
Neurofibromatosis
Arterial hypertension 214, 217,
377
Arterial obstruction
anterior cerebral artery 212,
213
anterior choroidal artery 212,
319
anterior inferior cerebellar
artery 213
basilar artery 213, 214, 224-225
internal carotid artery 212
middle cerebral artery 212, 213
posterior cerebral artery 212
posterior inferior cerebellar
artery 213
subclavian artery 212
superior cerebellar artery
213
Arterio-venous malformations
213,215,229-253
Arteritis, infectious 139, 149
Arylsulfatase A, deficiency 127
Asparaginase L 373
Aspergillosis 379
Asphyxia (perpartum) 186, 188,
189, 190, 192
Astrocytoma, location
basal ganglia 315-318
brainstem 276
cerebellum 268-272, 284
cerebral hemispheres 325-331
pineal region 289
Ataxia-telangiectasia 111, 137
Atlanto-axial malformation
368-370
Atlanto-axial subluxation 136,
214
Attrition, cerebral 345
Basal ganglia
arterio-venous malformation
234
ischemia 189, 204, 205, 213, 214
tumor 255, 315-318
Basilar impression 368-370
BCNU encephalomyopathy 378
Benign external hydrocephalus 83
Beta-galactocerebrosidase,
deficiency 125
Beta-HCG 289-291
Biopsy
stereotaxic 290
transsphenoidal 290, 313
Blake pouch 69
402
Bloch-Sulzberger syndrome 105
Bobble-head doll syndrome 68
Bourneville's disease, see Tuberous
sclerosis
Brachycephaly 357
Brainstem
encephalitis 159
hematoma 234, 248, 249
hypoplasia 3, 45
ischemia 189
trauma 346
tumor 255, 276-283
tumoral extension 264
Breech delivery 185, 192
Bromocriptin 309-310
Bupthalmos 89, 99, 171
Cafe-au-lait spot 85
Calcification, intracranial
in aneurysm 237
in astrocytoma 268, 269
in arterio-venous malformation
233
in brainstem tumor 277, 278
in cavernous hemangioma 236
in chordoma 285
in craniopharyngioma 302, 309
in cysticercosis 182, 183
in cytomegalovirus infection 171
in encephalo-cranio-cutaneous
lipomatosis 106
in ependymoma 264, 323
in glioma, optic 296
in herpes encephalitis 162, 164
in Kearns-Sayre syndrome 135
in leptomeningitis 146
in lipoma of corpus callosum 6
in medulloblastoma 256, 260
in meningioma 333-335
in mineralizing micro angiopathy
375-376
in necrotizing leukoencephalo-
pathy 374-375
in neuroblastoma 274
in neurofibromatosis 89
in oligodendroglioma 331
in papilloma 319
in pineal tumor 289-295
in poliodystrophy 118
in retinoblastoma 337-340
in rubella, congenital 171
in Sturge-Weber syndrome 99
in subacute sclerosing panence-
phalitis 170
in sudanophilic leukodystrophy
124
in toxoplasmosis 176-179
in tuberculosis, intracranial 151
in tuberous sclerosis 94-98
in vein of Galen aneurysm 232
Canavan's disease, see Van
Bogaert-Canavan disease
Candidiasis 215, 378-379, 385
Carcinoma
embryonal 289
nevoid basal cell 109
Cardiac arrest 215, 219
Cardiopathy, see Heart disease
Carpenter's syndrome 357-358
Cataract 29, 105, 171
Catastrophic syndrome 191
Catecholamines, metabolites 335
Catheter, complications
arterial 185, 215, 218
venous 215, 220
Cavernous hemangioma 229, 230,
235-236, 251
Cebocephaly 17
Cephalocele
in cerebellar hypoplasia 46
in corpus callosum malforma-
tion 3, 4, 15, 16
in Dandy-Walker malformation
41
fronto-ethmoidal 54, 55
in HARD ± E syndrome 28
interfrontal 54
naso-ethmoidal 54
naso-frontal 54
naso-orbital 54
occipital 55-56
parietal 57
posterior, orbital 55
sphenoidal 52-54
Cerebellar astrocytoma 268-272
Cerebellar atrophy 137
Cerebellar hematoma 193, 234,
247, 248
Cerebellar hypoplasia
global 3,11,28,37,171
hemispheric 3
neocerebellar 44-45
unilateral 45
vermian 3, 44-51
Cerebellar metastasis 275
Cerebellar neuroblastoma 274-276
Cerebellar sarcoma 274
Cerebral hypoplasia, hemispheric,
unilateral 4, 46, 78, 79
Cerebro-hepato-renal syndrome
29,33
Cerebrotendinous xanthomatosis
111,131
Ceroid lipofuscinosis 111, 121,
122
Ceruloplasmin
diminished 119
elevated 112
Subject Index
Chemotherapy 257, 374-384
Chenodesoxyoholic acid 131
Chiari malformation, see Cleland-
Chiari malformation
Chiasm, optic glioma 295-302
Child abuse syndrome 343, 348
Cholestanol, elevated 131
Cholesteatoma 273
Cholesterol
in craniopharyngioma 302
elevated 13
Chondral calcifications 29
Chondroma 255, 312-313
Chordoma 255, 285, 286, 312
Chorioepithelioma 289
Chorioretinitis 163,169,171,176
Choroid plexus
hemorrhage 192
hypertrophy 99, 100
inflammation 139
papilloma 319-322
Chromosomal aberration
in corpus callosum malforma-
tion 2
in cortical malformation 27
in prosencephaly 16
in retinoblastoma 337
in septum pellucidum absence
21
Chromosomal breakage 137
Christoma 106
Cisterna magna, cystic dilatation
3
Citrobacter 139
Cleland-Chiari malformation 33,
37--40, 56, 66
Clivus 285, 312, 313
Clostridium perfringens 140, 144
Cloverleaf skull 358
Coagulation
abnormalities 192
disseminated, intravascular 185,
188,220
Coarctation of aorta 214, 217, 237
Cockayne's syndrome 111,
123-125
Cocktail-party syndrome 34
Colloid cyst 71
Coloboma 4, 21, 22, 28, 53, 105
Concussion, cerebral 343-344
Conduction block, cardiac 95, 135
Contusion, cerebral 343, 345
Copper in serum
diminished 119
elevated 112
Cornea
abnormal vascularization 105
green ring 112
opacity 28, 136
Subject Index
Corpus callosum malformation
1-16
and agyria 28
associated malformations 3-4
and cephalocele 53, 57
and cerebellar hypoplasia 45
in congenital hemiplegia 194
and Dandy-Walker malforma-
tion 41
familial 2
and hamartoma 78, 79
Cortical malformation 6, 17, 21,
22, 26-33
see Agyria, Pachygyria, Poly-
microgyria
Corticotherapy 27
Craniometaphyseal dysplasia 365
Craniopharyngeal canal 53
Craniopharyngioma 255, 302-308
Craniosynostosis 4, 357-360
Cranium bifidum occultum 51
Crouzon's syndrome 4, 357-359
Cushing's disease 309
Cyclopia 17
Cyst
arachnoid 67-77
colloid 71
dermoid 255
dorsal 17
epidermoid 145, 146
epithelial 70, 71, 77, 78
interhemispheric 4, 6, 7
intratumoral
in astrocytoma, cerebellar 269
in astrocytoma, hemispheric
326-332
in craniopharyngioma
302-308
in glioma, optic 296
in pineal tumor 290
porencephalic, see Porencephaly
Rathke's cleft 70, 71
Cystic fibrosis 153
Cysticercosis 182-183
Cytochrome-C-oxydase, deficient
117
Cytomegalovirus infection,
congenital 171, 188
Cytotoxicity, viral 158, 162-163
Dandy-Walker syndrome 3, 10,
11, 28, 33, 41-44, 56, 57
Defect, calvarial 86, 87, 89, 93
Degeneration
progressive, lenticular 112
spongy, basal ganglia 112
spongy, diffuse 119
thalamic 189
Dehydration, acute 215, 220
Delayed hypoxic encephalopathy
219
Deletion, chromosomal
lq43 2
46XY,19( -) 21
17p13 27
DeMorsier's syndrome in
Alexander's disease 131
Demyelination
in ataxia-telangiectasia 137
in cortical malformation 29
in delayed hypoxic encephalo-
pathy 219
in globoid cell leukodystrophy
126
in histiocytosis 371
in metachromatic leuko-
dystrophy 127
in multiple sclerosis 173
in radionecrosis 385
in sudanophilic leukodystrophy
123, 124
in tuberous sclerosis 95
Dermoid cyst 145, 146, 255,
273-274
Diabetes insipidus 22, 53,
289-291, 295-303, 313, 371
Diencephalic emaciation
syndrome 297
Differante's disease 136
Diverticulation of lateral
ventricles 34
Dorsal cyst 17
Dysequilibrium syndrome 45
Dysgerminoma, see Germinoma
Dysostosis multiplex 136
Dysplasia
cortical 21, 22
hemispheric 6, 12, 13, 46, 78
osseous 357-372
septal 21-26
sphenoidal 86, 89, 93
Dystocia 185
Dystonia (review) 393-396
Echinococcosis 180
Eclampsia 185, 188
Edema, cerebral
diffuse 145, 188, 344
malignant, traumatic 343
Ehler-Danlos syndrome 237
Embolic migration 185
Embolic obstruction by fat 215
Embolization 231, 234, 238
Encephalitis
bacterial, inflammatory 145,
153
of brainstem 159, 277
403
cytomegalovirus 171
focal with epilepsia partialis
continua 159-160, 379
herpes simplex virus 162-168
measles, subacute, sclerosing
169
rubella 171
toxoplasmosis 176
viral 158-173
Encephalocele, see Cephalocele
Encephalo-cranio-cutaneous
lipomatosis 106
Encephalomalacia, multicystic
188, 201, 203, 232
Encephalomyelitis (after vaccina-
tion) 158
Endocarditis, bacterial 214
Endocrinal dysfunction 4, 18-21,
34, 53, 295-302, 309-310
Enterobacteriae 139, 140, 145, 153
Ependymoblastoma 263-268,
322-325
Ependymoma 255,256,263-268,
284, 289, 297, 322-325
Epidermoid cyst 145, 146, 273
Epidural abscess 155
Epidural hematoma 155
Epilepsia partialis continua
159-160, 370
Epithelial cyst 70
Epstein-Barr virus 158,172
Escherichia coli 139, 140, 143
Ethmocephaly 17
Ewing's tumor 275
Exoglycosidase, deficient 136
Exophtalmos
in cephalocele 55
in glioma, optic 296-302
in histiocytosis 313
in mucocele 313
in neurofibromatosis 87, 89
Extradural hematoma 343, 346
Facial cleft 4, 54
Fallot's tetralogy 217
Fatty acids, long, abnormal
metabolism 29, 129
Fetopathy
by cytomegalovirus 171
by herpes simplex virus 162
by rubella 171
by toxoplasmosis 176-179
Fetus papyraceus 188
Fibroma, subungeal 95
Fibromuscular dysplasia 213, 215,
218
Fibrous dysplasia 360-363
Fisher's syndrome 173
404
Fistula
in dermoid cyst 273
in intracranial infection 146
Foramen, optic, enlarged 86,
296-302
Foramen magnum
compressed 367, 368
enlarged 37
Foramen of Monro, obstruction 3
Foramina of Luschka and
Magendie, imperforation 41
Fourth ventricle
cystic 41
trapped 398-399
Fracture
growing skull 349-350
of sinuses 153
of skull basis 146, 344
of vault 344
Frontoethmoidal cephalocele
54-55
Frontoparietal cephalocele 4, 6,
16
Fukuyama syndrome 26, 28, 29
Gammaglobulines, oligoclonal
158,159,169,171,173
Generalized cortical hyperostosis
365-366
Germinoma 255, 289-290, 297,
333
Gigantism 309
Glaucoma 29
Glioblastoma multiforme
brain stem 276
cerebral hemispheres 325-331
radiation-induced 376, 383-384
third ventricle 297
Glioma
of brainstem 276-284
hemispheric 88, 325-331
hypothalamic 255, 295-302
" nasal" 51
of optic pathways 86-88, 255,
295-302, 337, 338
" pencil" 291
of pineal region 291
of third ventricle region 255,
295-302
Gliomatosis 255, 284-285
Gliosis 34, 119, 135
Globoid cell leukodystrophy 111
Gorlin's syndrome 85, 109
Granuloma
eosinophilic 275, 371
fungal 379
tuberculous 151
Growth hormone
deficient 34, 53, 258, 309, 313
increased 69, 309
Gruner's syndrome 21-26
Guillain-Barre syndrome 172-173
Haemophilus influenzae 140,
145-147, 153
Hamartoma
of iris, see Lisch spot
of tuber cinereum 3, 12, 78-82
Hand-SchUller-Christian syndrome
313
HARD ± E syndrome 28
Heart disease
congenital 171,185,214,215,
217, 220, 358
cyanotic 153, 154
Heart failure, congestive 231
Hemangioblastoma 274, 275
Hemangioma
of brainstem 277
calcifians 255, 278
cavernous 229, 230, 235-236,
251
cystic 278
orbital 337-342
Hematoma
of brainstem 234, 277
of cerebellum 192-193, 234, 347
extradural 343, 346
intracerebral 191, 209, 233, 237
spontaneous 234
of posterior fossa 192, 193, 210,
211
subependymal 208, 232
Hemimegalencephaly 28, 84, 105
Hemiplegia, congenital, infantile
193
Hemolytic-uremic syndrome 215,
221, 228
Hemorrhage
of choroidal veins 192
intracerebral 100, 163, 191, 192,
231, 344, 373-374
intratumoral 257
intraventricular 192
of posterior fossa 192-193
of the premature 191, 192
subarachnoid 230,231, 233, 237
subependymal 191, 192
of the term newborn 192-193
Hepatomegaly 29, 136, 162, 171,
176,177,363,371
Herniation
cerebellar 37
cerebral, extracranial 51
temporal 326, 347
Heterotopias, trans-tentorial 5, 6,
21, 26, 64, 78, 84
Hippel-Lindau syndrome 85, 274
Subject Index
Histiocytosis X 255, 275, 276,
337-342, 371-372
Homocystinuria 111,213,215
Hoyt-Kaplan-Grumbach
syndrome 21
Hunter's disease 136
Huntington's disease 111-112
Hurler's disease 136
Hydatid cyst 180--181
Hydranencephaly 171,176,
186-188
Hydrocephalus
in aneurysm of the vein of
Galen 231
by aqueductal stenosis 33-36
in arachnoid cyst 68-70
in arterio-venous malformation
234
benign, external 83
in cephalocele 56
in Cleland-Chiari malformation
38
in corpus callosum malforma-
tion 3
in cysticercosis 182
in Dandy-Walker malformation
41-44
in HARD ± E syndrome 28
in leptomeningitis 139-148
in melanosis, neurocutaneous
108, 109
in mucopolysaccharidosis 136
in neurofibromatosis 88
and nevi, facial 109
in nevoid basal cell carcinoma
syndrome 109
parainfectious, acute, obstruc-
tive 172
post-traumatic 346
in Sturge-Weber syndrome 100
in toxoplasmosis 176-179
in tuberculous meningitis
149-151
Hydromyelia 38, 368-370
Hydrops fetalis 185
3-Hydroxy-3-methylglutaryl CoA
lyase deficiency 133
Hyperglycinemia, non-ketonic 133
Hyperlipemia 215,217
Hyperplasia of pituitary gland
255, 309-310
Hypertelorism 4, 6, 41, 53-55, 358
Hypertension
arterial 214, 217, 377
venous 231
Hypoglycemia 22
Hypomelanosis of Ito 108
Hypoparathyroidism 135
Hypopituitarism 22, 68, 149
Subject Index
Hypoplasia
of brainstem 3, 11, 28
of cerebellum
global 3,11,28
hemispheric 3
neocerebellar 44, 45
vermian 3, 45
of cerebral hemisphere 4
of chiasm, optic 53
of eye 53
of falx 37
of frontal, temporal lobes 26
of olfactory tract 17
of optic nerve 4, 21, 22, 53
of pituitary gland 17
of tentorium 37
Hypotelorism 17, 29
Hypothalamic insufficiency 4, 21
Hypothermia, paroxystic 5, 119
Hypothyroidism 310, 311
Hypovolemia, acute, fetal 185
Iatrogenic complications 264,
373-386
Immunodeficiency
acquired 139, 153, 158
congenital 137, 145, 153, 154,
158
Inclusion body
conjunctival 122, 129
in herpes encephalitis 158, 162
neuronal 121, 136
in sweat gland 123
Incontinentia pigmenti or Bloch-
Sulzberger syndrome 105
Incontinentia pigmenti achromians
or hypo melanosis of Ito 108
Induction, tissular 52
Infantile neuroaxonal dystrophy
122
Infection
feto-maternal 185, 188
fungal 378, 385
intracranial 139-183
middle ear 153
neonatal 192
orbital 256, 339
Injury, cerebral, parasagittal 190
Interferon 139, 162
Interhemispheric cyst 4, 6, 12-14,
17
Iris nodules 85
Irradiation, see Radiotherapy
Ischemia
of basal ganglia 68, 189
of brainstem 189
cerebral, diffuse 188, 189
in cysticercosis 182
in glioma of optic pathways 296
hemispheric, focal 190
in incontinentia pigmenti 105
in leptomeningitis 139-141, 145
radiation-induced 290, 296, 304
in sudden infant death
syndrome 219-220
in trichopoliodystrophy 119
in tuberculous meningitis 149,
150
in vein of Galen aneurysm 232
Jansky-Bielchowsky disease 121
Jervis disease 124
Joubert's syndrome 45--46
Kayser-Fleischer ring 112
Kearne-Sa yre disease 111, 13 5
Keratocyst, odontogenic 109
Kinky hair (pili torti) 119
Klebsiella 139, 140, 143
Klinefelter syndrome 5, 289
Klippel-Feil anomaly 358
Klippel-Trenaunay syndrome 99
Koch bacillus 139, 149
Krabbe's disease 111, 125-126
Laceration, cerebral 343
Lacunar skull (Liickenschiidel)
37
Lafora's disease 123
Leigh's disease 111, 114-11 7
Leptomeningitis
and abscess 153
in childhood 145-148
chronic, meningococcal 145
neonatal 139-144
recurrent 145, 273
Leukemia 215, 220, 255, 373-384
Leukocoria 337-342
Leukodystrophy
in adrenoleukodystrophy
129-130
in Alexander's disease 131, 132
in cerebro-tendinous xanthoma-
tosis 131
in globoid cell leukodystrophy
125, 126
in Kearns-Sayre syndrome 135
in metachromatic leukodystro-
phy 111,127,128
in spongy degeneration 133, 134
in sudanophilic leukodystrophy
29, 123-125
Leukoencephalitis
acute 158
hemorrhagic 158, 159
perivenous 139, 158, 159
Leukomalacia 186, 190--191, 206,
207, 231
405
Lipoma
of the corpus callosum 3, 4, 6,
15, 16, 55, 106
subcutaneous 106
Lipomatosis 84
encephalo-cranio-cutaneous 106
Lisch spot 85
Lissencephaly, see Agyria
Listeria 139, 140
Little's syndrome 191
Liver cirrhosis 112
Locked-in syndrome 214, 237
Lupus erythematosus 215
Lymphangioma 86, 256, 337-342
Lymphoma 256, 339, 373-384
Lymphosarcoma 313, 373-384
Maceration (of one twin) 188
Macrocephaly (review) 396--399
Malignant edema syndrome 343
Maroteaux-Lamy disease 136
Matrix, germinal 186, 191, 192
Maturation, skeletal, delayed 302,
309
Measles encephalitis
acute 158
subacute 139, 379
sclerosing panencephalitis
169, 170
Meckel's cavity 287
Meckel-Gruber pseudotrisomy
13 syndrome 16
Medulla
"buckled" 38
compressed 136
tumor 86--88, 277, 284
Medulloblastoma 109,255--262,
274, 284, 333
Megalencephaly (review) 396--399
Melanoma 109
Melanosis, neurocutaneous 108,
109
Meningioma 88, 256, 258, 288,
333-335, 376
Meningitis
bacterial 139-149, 215
chronic, in rubella 171
by collagen deposition 136
recurrent 273
tuberculous 149-153,215, 284
tumoral 109, 284, 322, 337, 371,
373
Meningococcus 145, 146
Meningosarcoma 333-335
Menkes' disease, see Trichopolio-
dystrophy
Metabolic diseases 111-137
Metachromatic leukodystrophy
111, 127, 128
406
Metaphyseal dysplasia 365
Metastasis 255-257, 263, 264, 278,
284, 289-291, 297, 319,
322-325, 333, 335-337
dural 336
extracranial 257, 290
Methotrexate 374, 377
Microadenoma, see Adenoma
Microangiopathy, mineralizing
258, 278, 290, 296, 376-377,
382
Microphtalmia 4,17,28,41,80,
105,108,171,176
Migraine, trauma-triggered 344
Miller-Dieker syndrome 26-27
Moebius syndrome 189
Monosomy 1 2
Morquio's disease 136
Mosaic, chromosomal 2
Moya-moya syndrome 150,213,
217,226
Mucocele 255, 313, 314
M ucopolysaccharidosis 111,
136-137
Multiple sclerosis 139,173-175,
277
Mumps virus 172
Muscular dystrophy and agyria
28,29
Mycoplasma pneumoniae 158
Mycosis, intracranial 139, 378-379
Myelography 258, 263, 264, 284
Myelo-meningocele 37, 51
Nasofrontal cephalocele 4
Near-miss syndrome 215,
219-220, 227
Necrotizing encephalomyelopathy
114-117
Necrotizing leukoencephalopathy
374-375, 381
Nelson's syndrome 309
Neocerebellar hypoplasia 44-45
Nerve conduction velocity,
diminished 126, 127
Nerve growth factor 86
Neurinoma
Vth cranial nerve 287, 288
VIIIth cranial nerve 88, 255,
287
Neuroblastoma 255, 256, 284, 335
cerebellar 274-276
extracranial 335
orbital 337-342
primary 335
Neurocutaneous syndromes
85-109
Neuroepithelial tumor 256, 276
Neurofibroma 86-89, 256
intracranial 88, 89
orbital 89, 339
Neurofibromatosis 33, 55, 85-93,
213,215,217,229,295-302,
333
Nevoid basal cell carcinoma
syndrome 109
Nevus
achromic 86
depigmented 94, 95
facial, port wine 109
hairy 109
of Jadassohn 105
pigmented 109
Nevus linearis sebaceous
syndrome 105-106
Notochordal plate 17, 52, 78
Obesity 34,295-302, 371
Occipital cephalocele 41, 46
Olfactory tract
in fronto-ethmoidal cephalocele
54
in prosencephaly 16-18
Oligodendroglioma 256, 331-332
Oilier's disease 313
Optic glioma 86-88
Optic nerve hypoplasia 4, 21-26,
29
Optic neuritis 173
Orbital tumor 337-342
Orodigitofacial syndrome 4, 6
Osteitis 154, 155
Osteomyelitis 153, 364
Osteopetrosis 363-364
Osteosarcoma 335
Otitis 153, 154, 226
Overdose (heroin) 219
Pachygyria
diffuse 22, 26-28
focal 28, 32, 84
Pachymeningitis 136
Palatine fissure 4, 20, 41, 53, 108
Papilloma of the choroid plexus 6,
106,256
of the fourth ventricle 275
of the lateral ventricles 319-322
of the third ventricle 297
Parainfectious acute obstructive
hydrocephalus 172
Paraneoplasic syndrome 215
Parasagittal cerebral injury 190
Parietal cephalocele 4
Parinaud's syndrome 34, 289-291
Pelizaeus-Merzbacher disease 123,
124
Penicillamine (D) 112
Periarteritis nodosa 215
Subject Index
Peripheral neuropathy (in corpus
callosum malformation) 2, 5
Petrous scalloping 37
Phakomatosis, see Neurocutaneous
syndromes
Phenylcetonuria 111
Pinealoblastoma 289-291
Pinealocytoma 289-291
Pinealoma 255, 289-295
Pituitary deficiency 309
Pituitary hyperplasia 309-310
Placenta praevia 185
Plagiocephaly 357
Pneumocele 344
Pneumococcus 145, 146, 148, 153
Polio dystrophy 111, 117-121
Polycystic kidney disease 237
Polycythemia
in cardiopathy 217
fetal 185
and venous thrombosis 220
Polymicrogyria 6, 22, 26, 27, 29,
79,84,105,106,171,186
Polyp, nasal 54
Polyuria-polydipsia syndrome, see
Diabetes insipidus
Porencephaly 186-187
in abscess, cerebral 154
in agyria 28
in basal ganglia 189
in cerebellar hypoplasia 45
in corpus callosum malforma-
tion 4
in cytomegalovirus infection 171
in encephalocranio-cutaneous
lipomatosis 106
expanding, progressive 25, 187,
194,200
familial 187
in hemorrhage, intracerebral
192
in herpes encephalitis 163
in ischemia, acute, cerebral 214
in ischemia, cerebral, perinatal
193, 194
in leptomeningitis 140, 146
in parietal cephalocele 57
post-traumatic 345
in septal dysplasia 21-26
in Sturge-Weber syndrome 101
in toxoplasmosis 176
Posterior fossa hematoma 192,
193
Postmaturity 185
Precocious isosexual puberty 68,
69, 78-82, 86, 149, 289-291,
296-302, 360
Proboscis 17
Probst's bundles 3
Subject Index
Prognathism 124
Prolactinemia, increased 309-312
Proteus mirabilis 139, 140, 142,
143
Pseudarthrosis 86
Pseudohyoparathyroidism 135
Pseudo-Menkes disease 119
Pseudomonas 139, 140
Pseudosclerosis 112
Pseudotumor cerebri, post-
traumatic 349
Purpura fulminans 146
Pyle's disease, see Metaphyseal
dysplasia
Pyruvate carboxylase deficiency
117
Pyruvate metabolism, abnormal
114
Radionecrosis 262, 385-386
Radiotherapy 215,217, 234, 257,
261, 264, 269, 285, 289, 301,
303, 309, 316, 326, 331,
374-386
Rathke's cleft, cyst 70, 71
Rathke's pouch 302
Recurrence, tumoral 258, 269, 323
Remillard's syndrome 194
Repermeation of thrombosis 215
Retinal granuloma 151
Retinal hemorrhage 347, 348
Retinal lacunae 4, 5
Retinal phakoma 95
Retinal pigmentary degeneration
135
Retinal pigmentation, abnormal
105, 108
Retinitis pigmentosa 121
Retinoblastoma 256, 337-340
Retrognathism 4,41
Rhabdomyoma, cardiac 95
Rhabdomyosarcoma 256,291,
335, 337-340
Rhinorrhea (CSF) 344
Rosenthal fibers 131,268
Rubella, congenital 171, 172
Rubella encephalitis 149, 158
Russel's diencephalic syndrome
297
Salmonella 145
Saltatory syndrome 191
Sanfilippo's disease 136
Santavuori-Hagberg disease 121
Sarcoma 256, 274, 338
Scalloping, petro us 37
Scaphocephaly 357
Schaumburg's zones 1-3 129
Scheie's disease 136
Sch6nlein-Henoch syndrome 215,
221
Secretion
of contrast material 269, 324,
327, 328
excessive, of CSF 319
Seizures (review) 387-392
Sella turcica, enlarged 89,
289-290, 302-310
Septum pellucidum
agenesis 21-26, 186, 187, 194,
237
in corpus callosum malforma-
tion 3
rupture 21, 34, 36
Serratia 140
Sexual infantilism 34, 296
Sexual precocity 34
Shagreen patch 95
Shunt
failure 398
material 145
operation 140,149,172,187,
273, 289, 297, 319, 398
Shy's disease 136
Sickle cell disease 215, 221, 228
Sincipital cephalocele, see
Frontoethmoidal cephalocele
Sinusitis 154, 215, 220, 339
Sneddon's syndrome 215
Somatotrophic hormone,
deficiency 4, 21, 53
Spasm, vascular 215
Spheno-ethmoidal cephalocele 4,
52-55
Sphenoidal dysplasia 86, 89, 93,
296
Spielmeyer-Vogt disease 121
Spongioblastoma 88, 276, 289,
296
Spongy degeneration 133, 134
Staphylococcus 145, 146, 153
Status marmoratus 189
Storage bodies 136
Streptococcus B 139, 140, 141,
153
Sturge-Weber disease 99-104, 109,
229
Subacute sclerosing panencepha-
litis 169-170
Subarachnoid hemorrhage 230,
231, 233, 237, 278, 344
Subarachnoid tumoral seeding
257, 268, 297, 323, 326, 337
Subdural empyema 139, 140, 146,
154-155
Subdural hematoma
acute 347
in arachnoid cyst 69
407
chronic 348
after shunt operation 33, 34,
398
Subdural hygroma 349
Sudanophilic leukodystrophy 29,
111, 123-125
Sudden infant death syndrome
219-220
Syringomyelia, see Hydromyelia
Telangiectasia, oculocutaneous
137,230
Tentorium
elevation 41
hypoplasia 37, 38
Teratoma, pineal 289-293
Thalamic degeneration 189
Therapeutic efficacy 139, 154
Thrombocytopenia 238, 363, 373
congenital, isoimmune 185, 197
Thromboplastin, tissular 188
Thrombosis
of aneurysm, spontaneous 230,
231
arterial, infectious 145
multiple 188
recurrent 213
of sinus 373
traumatic 344
of veins, cerebral 139, 220, 221
Thymic hormone, deficiency 137
Toni-Debre-Fanconi syndrome
117
Toxemia 185
Toxoplasmosis
acquired 139, 176, 379-380
congenital 176--179,188
Transfusion
feto-fetal 185, 188
feto-maternal 185, 188
in sickle cell disease 221
Transillumination, cranial 41, 188
Translocation, chromosomal 2, 27
Transposition of great vessels 217
Transsphenoidal biopsy 290, 313
Transsphenoidal excision 309
Trauma
cerebral 343-356
cervical 215
intra-oral 215
maternal, abdominal 185, 188
Trichopoliodystrophy 111,
119-120,215
Trigonocephaly 17, 357
Trisomy, chromosomal 2, 16
T -suppressor cell 173
Tuberculoma 149-153
Tuberculosis, intracranial
149-153, 284
408
Tuberous sclerosis 85, 93-98, 325,
326
Tumor, intracranial 255-342
with arterial obstruction 215,
218, 219
ectopic 289
embryonal 325
in Gorlin's syndrome 109
in neurofibromatosis 86-89
primitive, neuroectodermal 333
radiation-induced 333
simulated by tuberculoma 151
with tumoral meningitis 109,
284, 322
with venous obstruction 220
Twin pregnancy 188, 189
Ulegyria 189
Van Bogaert-Canavan disease
111,133
Van Buchem's disease, see General-
ized cortical hyperostosis
Varicella encephalitis 158
Vein of Galen aneurysm 230---233
Venous drainage, abnormal 99,
100, 106, 109, 236-237, 252
Venous malformations 229, 230,
236-237
Ventriculitis 139-144
Subject Index
Ventriculo-cisternostomy
opera tory 34, 88, 398
spontaneous 34, 397-399
Vincristine toxicity 215, 377
Von Recklinghausen's disease, see
Neurofibromatosis
Walker syndrome 26, 28
Wernicke's disease 114
Wilm's tumor 275, 335
Wilson's disease 111
Xanthoma 86, 131
Zellweger's syndrome 29, 33